Y40C (p.Tyr40Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
Y40C (p.Tyr40Cys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
Y40C (p.Tyr40Cys) variant details
- p.Tyr40Cys
- ExAC rs749826443
- TOPMed rs749826443
- gnomAD rs749826443
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)