G2722V (p.Gly2722Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2722V (p.Gly2722Val) 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; Epidermolysis bullosa dystrophica; COL7A1-related disorder. The record also includes variant effect predictions and published literature.
G2722V (p.Gly2722Val) variant details
- p.Gly2722Val
- rs759949767
- ClinGen CA352639904
- ClinVar RCV001352715
- ClinVar RCV003405591
- Pathogenic
- not provided; Epidermolysis bullosa dystrophica; COL7A1-related disorder
- Missense
- AlphaMissense 0.67
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (not provided; Epidermolysis bullosa dystrophica; COL7A1-related)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)