G2012D (p.Gly2012Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2012D (p.Gly2012Asp) 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.
G2012D (p.Gly2012Asp) variant details
- p.Gly2012Asp
- rs2107674937
- ClinGen CA352663738
- ClinVar RCV002277084
- ClinVar RCV003227064
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa; not provided
- Missense
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa; not provi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)