S61N (p.Ser61Asn) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S61N (p.Ser61Asn) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
S61N (p.Ser61Asn) variant details
- p.Ser61Asn
- TOPMed rs921535737
- gnomAD rs921535737
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 23.30
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)