G13R (p.Gly13Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G13R (p.Gly13Arg) 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.
G13R (p.Gly13Arg) variant details
- p.Gly13Arg
- rs773363147
- ClinGen CA2381678
- ClinVar RCV002766634
- ExAC rs773363147
- Likely benign
- not provided
- Missense
- CADD 8.92
- PolyPhen-2 0.29
- SIFT 0.31
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)