G2263D (p.Gly2263Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2263D (p.Gly2263Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions and population frequency data.
G2263D (p.Gly2263Asp) variant details
- p.Gly2263Asp
- rs1405839597
- ClinGen CA352654727
- ClinVar RCV001560216
- gnomAD rs1405839597
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)