G95V (p.Gly95Val) variant of COL17A1 (Collagen alpha-1(XVII) chain)
G95V (p.Gly95Val) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Junctional epidermolysis bullosa, non-Herlitz type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and published literature.
G95V (p.Gly95Val) variant details
- p.Gly95Val
- rs538962685
- ClinGen CA5679502
- ClinVar RCV001108222
- 1000Genomes rs538962685
- Uncertain significance
- Junctional epidermolysis bullosa, non-Herlitz type
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa, non-Herlitz type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)