S37T (p.Ser37Thr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S37T (p.Ser37Thr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
S37T (p.Ser37Thr) variant details
- p.Ser37Thr
- TOPMed rs1195468983
- gnomAD rs1195468983
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)