S29Y (p.Ser29Tyr) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S29Y (p.Ser29Tyr) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- ExAC rs762515039
- gnomAD rs762515039
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)