C31Y (p.Cys31Tyr) variant of COL7A1 (Collagen alpha-1(VII) chain)
C31Y (p.Cys31Tyr) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
C31Y (p.Cys31Tyr) variant details
- p.Cys31Tyr
- gnomAD rs1303123894
- Missense
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)