S45C (p.Ser45Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S45C (p.Ser45Cys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- ExAC rs781524207
- TOPMed rs781524207
- gnomAD rs781524207
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)