T20S (p.Thr20Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
T20S (p.Thr20Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
T20S (p.Thr20Ser) variant details
- p.Thr20Ser
- ExAC rs766571485
- gnomAD rs766571485
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.70
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)