R6K (p.Arg6Lys) variant of REN (Renin)
R6K (p.Arg6Lys) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- rs753328645
- ClinGen CA1345091
- ClinVar RCV003831237
- ClinVar RCV005015015
- Uncertain significance
- Familial juvenile hyperuricemic nephropathy type 2; Renal tubular dysgenesis of
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.04
- MetaLR 0.09
- MetaSVM -1.04
- CADD 8.90
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Familial juvenile hyperuricemic nephropathy type 2; Renal tubula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)