G2079R (p.Gly2079Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2079R (p.Gly2079Arg) 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 Inborn genetic diseases; not provided; Generalized dominant dystrophic epidermol. The record also includes variant effect predictions and published literature.
G2079R (p.Gly2079Arg) variant details
- p.Gly2079Arg
- rs2107671960
- ClinGen CA352662335
- ClinVar RCV001586537
- ClinVar RCV002276821
- Pathogenic
- Inborn genetic diseases; not provided; Generalized dominant dystrophic epidermol
- Missense
- AlphaMissense 0.61
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.95
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Generalized dominant dyst)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study. (PMID 10232408)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)