R119C (p.Arg119Cys) variant of REN (Renin)
R119C (p.Arg119Cys) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R119C (p.Arg119Cys) variant details
- p.Arg119Cys
- rs151265393
- ClinGen CA1344976
- ClinVar RCV002751496
- ClinVar RCV002794788
- Uncertain significance
- Renal tubular dysgenesis of genetic origin; Familial juvenile hyperuricemic neph
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.15
- MetaLR 0.15
- MetaSVM -0.90
- CADD 32.00
- PolyPhen-2 0.85
- SIFT 0.13
- 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 3e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)