G2517D (p.Gly2517Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2517D (p.Gly2517Asp) 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 Epidermolysis bullosa dystrophica; not provided. The record also includes variant effect predictions and population frequency data.
G2517D (p.Gly2517Asp) variant details
- p.Gly2517Asp
- rs2043791236
- ClinGen CA352644788
- ClinVar RCV003555061
- Likely pathogenic
- Epidermolysis bullosa dystrophica; not provided
- Missense
- CADD 23.30
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Likely pathogenic (Epidermolysis bullosa dystrophica; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)