R43Q (p.Arg43Gln) variant of REN (Renin)
R43Q (p.Arg43Gln) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R43Q (p.Arg43Gln) variant details
- p.Arg43Gln
- NCI-TCGA Cosmic COSV6581
- cosmic curated COSV65817
- TOPMed rs1658258090
- Uncertain significance
- not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.52
- MetaLR 0.49
- MetaSVM -0.00
- CADD 26.70
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Renal tubular dysgenesis of genetic origin; Famili)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available