R55S (p.Arg55Ser) variant of REN (Renin)
R55S (p.Arg55Ser) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R55S (p.Arg55Ser) variant details
- p.Arg55Ser
- rs367565954
- ClinGen CA1345045
- ClinVar RCV002643015
- ESP rs367565954
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.04
- CADD 13.40
- PolyPhen-2 0.22
- SIFT 0.18
- ClinVar: Uncertain significance (Renal tubular dysgenesis of genetic origin; Familial juvenile hy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available