G2213R (p.Gly2213Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2213R (p.Gly2213Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and population frequency data.
G2213R (p.Gly2213Arg) variant details
- p.Gly2213Arg
- rs1252952323
- ClinGen CA352656036
- ClinVar RCV002640616
- TOPMed rs1252952323
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)