C31R (p.Cys31Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
C31R (p.Cys31Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
C31R (p.Cys31Arg) variant details
- p.Cys31Arg
- ExAC rs777372646
- gnomAD rs777372646
- Missense
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)