G2006S (p.Gly2006Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2006S (p.Gly2006Ser) 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 Generalized dominant dystrophic epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G2006S (p.Gly2006Ser) variant details
- p.Gly2006Ser
- rs2107675136
- ClinGen CA352663893
- ClinVar RCV002277082
- Ensembl rs2107675136
- Pathogenic
- Generalized dominant dystrophic epidermolysis bullosa
- Missense
- AlphaMissense 0.59
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Generalized dominant dystrophic epidermolysis bullosa)
- EBI: Pathogenic (in DDEB)
- UniProt: Pathogenic (in DDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)