G2775S (p.Gly2775Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2775S (p.Gly2775Ser) 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; not provided; Epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G2775S (p.Gly2775Ser) variant details
- p.Gly2775Ser
- rs1333259313
- ClinGen CA352636944
- ClinVar RCV001380605
- ClinVar RCV002276720
- Pathogenic
- Recessive dystrophic epidermolysis bullosa; not provided; Epidermolysis bullosa
- Missense
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Recessive dystrophic epidermolysis bullosa; not provided; Epider)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Cited in: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. (PMID 9740253)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)