R9H (p.Arg9His) variant of REN (Renin)
R9H (p.Arg9His) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 2; Ren. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs777899883
- ClinGen CA1345086
- NCI-TCGA Cosmic COSV6581
- ClinVar RCV002790175
- Uncertain significance
- Inborn genetic diseases; Familial juvenile hyperuricemic nephropathy type 2; Ren
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.03
- CADD 3.58
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial juvenile hyperuricemic nephrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – REN. (PMID 21473025)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)