G2040D (p.Gly2040Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2040D (p.Gly2040Asp) 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; Epidermolys. The record also includes variant effect predictions and published literature.
G2040D (p.Gly2040Asp) variant details
- p.Gly2040Asp
- rs2044225406
- ClinGen CA352663115
- ClinVar RCV001352762
- ClinVar RCV002276702
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa; not provided; Epidermolys
- Missense
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa; not provi)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent… (PMID 20598510)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)