G76V (p.Gly76Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G76V (p.Gly76Val) 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.
G76V (p.Gly76Val) variant details
- p.Gly76Val
- gnomAD rs1420002915
- Uncertain significance
- Missense
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)