L16H (p.Leu16His) variant of REN (Renin)
L16H (p.Leu16His) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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.
L16H (p.Leu16His) variant details
- p.Leu16His
- rs121917743
- ClinGen CA344343036
- ClinVar RCV000505648
- Ensembl rs121917743
- Likely 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: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 2)
- EBI: Pathogenic (in ADTKD4)
- UniProt: Pathogenic (in ADTKD4)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)