G114V (p.Gly114Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G114V (p.Gly114Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and population frequency data.
G114V (p.Gly114Val) variant details
- p.Gly114Val
- rs763402171
- ClinGen CA352748466
- ClinVar RCV002651702
- ExAC rs763402171
- Conflicting interpretations
- not provided; Epidermolysis bullosa dystrophica
- Missense
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Epidermolysis bullosa dystrophica)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available