R78C (p.Arg78Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R78C (p.Arg78Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R78C (p.Arg78Cys) variant details
- p.Arg78Cys
- 1000Genomes rs200381437
- ExAC rs200381437
- gnomAD rs200381437
- Uncertain significance
- not provided
- Missense
- CADD 33.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)