R33Q (p.Arg33Gln) variant of REN (Renin)
R33Q (p.Arg33Gln) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs375880823
- ClinGen CA1345072
- ClinVar RCV002634329
- ClinVar RCV005021660
- Uncertain significance
- not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.34
- MetaLR 0.20
- MetaSVM -0.82
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Renal tubular dysgenesis of genetic origin; Famili)
- EBI: Variant of uncertain significance (in dbSNP:rs11571098)
- UniProt: Uncertain significance (in dbSNP:rs11571098)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)