S37N (p.Ser37Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S37N (p.Ser37Asn) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
S37N (p.Ser37Asn) variant details
- p.Ser37Asn
- TOPMed rs1195468983
- gnomAD rs1195468983
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)