R26K (p.Arg26Lys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R26K (p.Arg26Lys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R26K (p.Arg26Lys) variant details
- p.Arg26Lys
- Ensembl rs963992970
- Missense
- CADD 18.40
- PolyPhen-2 0.02
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)