G95D (p.Gly95Asp) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G95D (p.Gly95Asp) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data.
G95D (p.Gly95Asp) variant details
- p.Gly95Asp
- 1000Genomes rs538962685
- ExAC rs538962685
- TOPMed rs538962685
- gnomAD rs538962685
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available