G114A (p.Gly114Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G114A (p.Gly114Ala) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
G114A (p.Gly114Ala) variant details
- p.Gly114Ala
- ExAC rs763402171
- TOPMed rs763402171
- gnomAD rs763402171
- Uncertain significance
- Inborn genetic diseases
- Missense
- CADD 23.70
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available