R118P (p.Arg118Pro) variant of COL7A1 (Collagen alpha-1(VII) chain)
R118P (p.Arg118Pro) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R118P (p.Arg118Pro) variant details
- p.Arg118Pro
- rs966257558
- ClinGen CA73994040
- ClinVar RCV002619408
- TOPMed rs966257558
- Uncertain significance
- not provided
- Missense
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)