G2003E (p.Gly2003Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2003E (p.Gly2003Glu) 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 not provided; Generalized dominant dystrophic epidermolysis bullosa. The record also includes variant effect predictions and published literature.
G2003E (p.Gly2003Glu) variant details
- p.Gly2003Glu
- rs2107675162
- ClinGen CA352663960
- ClinVar RCV002267144
- ClinVar RCV002277081
- Pathogenic
- not provided; Generalized dominant dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.93
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (not provided; Generalized dominant dystrophic epidermolysis bull)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)