G2372V (p.Gly2372Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2372V (p.Gly2372Val) 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 Recessive dystrophic epidermolysis bullosa; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
G2372V (p.Gly2372Val) variant details
- p.Gly2372Val
- rs1233025207
- ClinGen CA352651224
- ClinVar RCV002651678
- ClinVar RCV004731493
- Pathogenic/Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; not provided
- Missense
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Recessive dystrophic epidermolysis bullosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)