G2070E (p.Gly2070Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2070E (p.Gly2070Glu) 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. The record also includes variant effect predictions and published literature.
G2070E (p.Gly2070Glu) variant details
- p.Gly2070Glu
- rs2107672732
- ClinGen CA352662557
- ClinVar RCV002277087
- Ensembl rs2107672732
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.83
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)