S50N (p.Ser50Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S50N (p.Ser50Asn) 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.
S50N (p.Ser50Asn) variant details
- p.Ser50Asn
- gnomAD rs1328450949
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)