G114E (p.Gly114Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G114E (p.Gly114Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
G114E (p.Gly114Glu) variant details
- p.Gly114Glu
- ExAC rs763402171
- TOPMed rs763402171
- gnomAD rs763402171
- Uncertain significance
- Missense
- CADD 24.20
- PolyPhen-2 0.88
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available