R4W (p.Arg4Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
R4W (p.Arg4Trp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- Ensembl rs938425936
- Missense
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.8e-05)