G2233S (p.Gly2233Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2233S (p.Gly2233Ser) 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; COL7A1-related disorder; Recessive dystrophic epidermolysis bullos. The record also includes variant effect predictions, population frequency data, and published literature.
G2233S (p.Gly2233Ser) variant details
- p.Gly2233Ser
- rs2107661505
- ClinGen CA352655420
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV002277088
- Pathogenic
- not provided; COL7A1-related disorder; Recessive dystrophic epidermolysis bullos
- Missense
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; COL7A1-related disorder; Recessive dystrophic epid)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)