G76D (p.Gly76Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G76D (p.Gly76Asp) 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 not provided. The record also includes variant effect predictions and population frequency data.
G76D (p.Gly76Asp) variant details
- p.Gly76Asp
- rs1420002915
- ClinGen CA352749340
- ClinVar RCV003085712
- gnomAD rs1420002915
- Uncertain significance
- not provided
- Missense
- CADD 27.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available