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Table 1 Functional prediction of rs2549097 and rs75776403 in CLEC18A

From: Human rs75776403 polymorphism links differential phenotypic and clinical outcomes to a CLEC18A p.T151M-driven multiomics

Variant

rs2549097

rs75776403

Allelic change

c.353C > T [GCG → GTG]

c.452C > T [ACG → ATG]

Amino acid change

p.A118V

p.T151M

Protein domain

CAP/SCP/TAPS

CAP/SCP/TAPS

SIFT

0.06 [Tolerated]

0 [Deleterious]

PolyPhen-2

0.000 [Benign]

0.998 [Probably damaging]

CADD Phred

0.245 [Non-deleterious]

22.7 [Deleterious]

  1. CAP C-terminal cysteine-rich secretory protein/antigen 5/pathogenesis related-1, SCP Sperm-coating protein, TAPS Tpx antigen 5/pathogenesis related-1/Sc7, SIFT Sort Intolerant From Tolerant, PolyPhen-2 Polymorphism Phenotyping v2, CADD Combined Annotation Dependent Depletion
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Journal of Biomedical Science

ISSN: 1423-0127