R118C (p.Arg118Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R118C (p.Arg118Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R118C (p.Arg118Cys) variant details
- p.Arg118Cys
- TOPMed rs1201459281
- gnomAD rs1201459281
- Missense
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)