S114N (p.Ser114Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S114N (p.Ser114Asn) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
S114N (p.Ser114Asn) variant details
- p.Ser114Asn
- ESP rs372557455
- ExAC rs372557455
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.50
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)