R58C (p.Arg58Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R58C (p.Arg58Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs780696923
- ClinGen CA2381627
- ClinVar RCV002029115
- ExAC rs780696923
- Likely benign
- not provided
- Missense
- CADD 25.10
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00069)