G174R (p.Gly174Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G174R (p.Gly174Arg) 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; Recessive dystrophic epidermoly. The record also includes variant effect predictions, population frequency data, and published literature.
G174R (p.Gly174Arg) variant details
- p.Gly174Arg
- rs1245411910
- ClinGen CA352746226
- ClinVar RCV001823202
- ClinVar RCV001871963
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica; Recessive dystrophic epidermoly
- Missense
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica; Recessive dystr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)