L16R (p.Leu16Arg) variant of REN (Renin)
L16R (p.Leu16Arg) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
L16R (p.Leu16Arg) variant details
- p.Leu16Arg
- rs121917743
- ClinGen CA256731
- ClinVar RCV000014006
- UniProt VAR 063770
- Pathogenic
- Familial juvenile hyperuricemic nephropathy type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.31
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.75
- SIFT 0.01
- MutPred 0.70
- ClinVar: Pathogenic (Familial juvenile hyperuricemic nephropathy type 2)
- EBI: Pathogenic (in ADTKD4)
- UniProt: Pathogenic (in ADTKD4)
- Structural context available
- Cited in: Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. (PMID 19664745)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)