R51G (p.Arg51Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
R51G (p.Arg51Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Nonsyndromic congenital nail disorder 8. The record also includes variant effect predictions, population frequency data, and published literature.
R51G (p.Arg51Gly) variant details
- p.Arg51Gly
- rs775852765
- ClinGen CA2381633
- ClinVar RCV002651703
- ClinVar RCV004783028
- Conflicting interpretations
- not provided; not specified; Nonsyndromic congenital nail disorder 8
- Missense
- CADD 27.60
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Nonsyndromic congenital nail disord)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)