C20R (p.Cys20Arg) variant of REN (Renin)
C20R (p.Cys20Arg) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Familial juvenile hyperuricemic nephropathy type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
C20R (p.Cys20Arg) variant details
- p.Cys20Arg
- rs1658347337
- ClinGen CA344343012
- ClinVar RCV001281275
- ClinVar RCV001879807
- Pathogenic/Likely pathogenic
- not provided; Familial juvenile hyperuricemic nephropathy type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- AlphaMissense 0.40
- MetaLR 0.12
- MetaSVM -0.91
- PolyPhen-2 0.83
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic/Likely pathogenic (not provided; Familial juvenile hyperuricemic nephropathy type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)