G2254R (p.Gly2254Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2254R (p.Gly2254Arg) 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 not provided; Recessive dystrophic epidermolysis bullosa; Generalized dominant d. The record also includes variant effect predictions and published literature.
G2254R (p.Gly2254Arg) variant details
- p.Gly2254Arg
- rs2107659888
- ClinGen CA352654887
- ClinVar RCV002244235
- ClinVar RCV005095799
- Pathogenic/Likely pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa; Generalized dominant d
- Missense
- AlphaMissense 0.95
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (not provided; Recessive dystrophic epidermolysis bullosa; Genera)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)