G2043R (p.Gly2043Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2043R (p.Gly2043Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G2043R (p.Gly2043Arg) variant details
- p.Gly2043Arg
- rs121912836
- ClinGen CA352663071
- ClinVar RCV001956461
- UniProt VAR 001820
- Pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)
- Cited in: Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent… (PMID 20598510)