G2218A (p.Gly2218Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2218A (p.Gly2218Ala) 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 Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull. The record also includes variant effect predictions and population frequency data.
G2218A (p.Gly2218Ala) variant details
- p.Gly2218Ala
- TOPMed rs2044057929
- Likely pathogenic
- Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull
- Missense
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Likely pathogenic (Nonsyndromic congenital nail disorder 8; Recessive dystrophic ep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00035)