G2009R (p.Gly2009Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2009R (p.Gly2009Arg) 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 Generalized dominant dystrophic epidermolysis bullosa; not provided. The record also includes variant effect predictions and published literature.
G2009R (p.Gly2009Arg) variant details
- p.Gly2009Arg
- rs2107675021
- ClinGen CA352663802
- ClinVar RCV002277083
- ClinVar RCV003093861
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa; not provided
- Missense
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa; not provi)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)
- Cited in: Modulation of disease severity of dystrophic epidermolysis bullosa by a splice site mutation in combination with a… (PMID 9215684)