G2245S (p.Gly2245Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2245S (p.Gly2245Ser) 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 Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions and published literature.
G2245S (p.Gly2245Ser) variant details
- p.Gly2245Ser
- rs2107660536
- ClinGen CA352655114
- ClinVar RCV002277065
- Ensembl rs2107660536
- Pathogenic
- Recessive dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.49
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Pathogenic (Recessive dystrophic epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)