G76R (p.Gly76Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G76R (p.Gly76Arg) 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.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- rs2045925638
- ClinGen CA352749346
- ClinVar RCV002626606
- TOPMed rs2045925638
- Uncertain significance
- not provided
- Missense
- CADD 27.20
- PolyPhen-2 0.64
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)