G2263V (p.Gly2263Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2263V (p.Gly2263Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G2263V (p.Gly2263Val) variant details
- p.Gly2263Val
- rs1405839597
- ClinGen CA352654731
- ClinVar RCV002021129
- gnomAD rs1405839597
- Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test… (PMID 10504458)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)