R78S (p.Arg78Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
R78S (p.Arg78Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R78S (p.Arg78Ser) variant details
- p.Arg78Ser
- 1000Genomes rs200381437
- ExAC rs200381437
- gnomAD rs200381437
- Missense
- CADD 25.70
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)