R33W (p.Arg33Trp) variant of REN (Renin)
R33W (p.Arg33Trp) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial juvenile hyperuricemic nephropathy type 2; Renal tubular. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- rs11571098
- ClinGen CA1345073
- ClinVar RCV001096287
- ClinVar RCV001096288
- Conflicting interpretations
- not provided; Familial juvenile hyperuricemic nephropathy type 2; Renal tubular
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.35
- MetaLR 0.22
- MetaSVM -0.65
- CADD 21.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial juvenile hyperuricemic nephropathy type 2)
- EBI: Benign (in dbSNP:rs11571098)
- UniProt: Benign (in dbSNP:rs11571098)
- Most common in the African/African-American population (allele frequency 0.001)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)