S37R (p.Ser37Arg) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S37R (p.Ser37Arg) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- ESP rs372461473
- ExAC rs372461473
- TOPMed rs372461473
- gnomAD rs372461473
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 23.90
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)