G2064E (p.Gly2064Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2064E (p.Gly2064Glu) 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.
G2064E (p.Gly2064Glu) variant details
- p.Gly2064Glu
- rs2107672816
- ClinGen CA352662668
- ClinVar RCV002277086
- ClinVar RCV003101244
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa; not provided
- Missense
- AlphaMissense 0.82
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa; not provi)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)