G2647S (p.Gly2647Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2647S (p.Gly2647Ser) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Nonsyndromic congenital nail disorder 8; Pretibial dystrophic epid. The record also includes variant effect predictions, population frequency data, and published literature.
G2647S (p.Gly2647Ser) variant details
- p.Gly2647Ser
- rs749788045
- ClinGen CA2378237
- ClinVar RCV002002103
- ClinVar RCV005031936
- Likely pathogenic
- not provided; Nonsyndromic congenital nail disorder 8; Pretibial dystrophic epid
- Missense
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Nonsyndromic congenital nail disorder 8; Pretibial)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)