Y109S (p.Tyr109Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
Y109S (p.Tyr109Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
Y109S (p.Tyr109Ser) variant details
- p.Tyr109Ser
- gnomAD rs1402901883
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)