R78L (p.Arg78Leu) variant of COL7A1 (Collagen alpha-1(VII) chain)
R78L (p.Arg78Leu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- gnomAD rs866241910
- Missense
- CADD 29.80
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)