G2330D (p.Gly2330Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2330D (p.Gly2330Asp) 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 Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica; n. The record also includes variant effect predictions and population frequency data.
G2330D (p.Gly2330Asp) variant details
- p.Gly2330Asp
- ExAC rs757846546
- TOPMed rs757846546
- gnomAD rs757846546
- Pathogenic/Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica; n
- Missense
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Recessive dystrophic epidermolysis bullosa; Epidermolysis bullos)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)