S61C (p.Ser61Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S61C (p.Ser61Cys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S61C (p.Ser61Cys) variant details
- p.Ser61Cys
- ExAC rs774692187
- gnomAD rs774692187
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)