G2043E (p.Gly2043Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2043E (p.Gly2043Glu) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Generalized dominant dystrophic epidermolysis bullosa; not provided. The record also includes variant effect predictions and published literature.
G2043E (p.Gly2043Glu) variant details
- p.Gly2043Glu
- rs2107674192
- ClinGen CA352663066
- ClinVar RCV002263324
- ClinVar RCV003994420
- Pathogenic/Likely pathogenic
- Generalized dominant dystrophic epidermolysis bullosa; not provided
- Missense
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Generalized dominant dystrophic epidermolysis bullosa; not provi)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)