G2009E (p.Gly2009Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2009E (p.Gly2009Glu) 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 Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bu. The record also includes variant effect predictions, population frequency data, and published literature.
G2009E (p.Gly2009Glu) variant details
- p.Gly2009Glu
- rs1342925232
- ClinGen CA352663771
- ClinVar RCV002290496
- ClinVar RCV004545808
- Pathogenic/Likely pathogenic
- Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bu
- Missense
- AlphaMissense 0.93
- MetaLR 0.98
- MetaSVM 1.04
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)