R58H (p.Arg58His) variant of COL7A1 (Collagen alpha-1(VII) chain)
R58H (p.Arg58His) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. The record also includes variant effect predictions and population frequency data.
R58H (p.Arg58His) variant details
- p.Arg58His
- TOPMed rs1197660529
- gnomAD rs1197660529
- Missense
- CADD 26.20
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)