G2428V (p.Gly2428Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2428V (p.Gly2428Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G2428V (p.Gly2428Val) variant details
- p.Gly2428Val
- rs1247022294
- ClinGen CA352648138
- ClinVar RCV001352860
- gnomAD rs1247022294
- Pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)