G63S (p.Gly63Ser) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G63S (p.Gly63Ser) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
G63S (p.Gly63Ser) variant details
- p.Gly63Ser
- rs146043118
- ESP rs146043118
- ExAC rs146043118
- TOPMed rs146043118
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)