R9C (p.Arg9Cys) variant of REN (Renin)
R9C (p.Arg9Cys) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs115181548
- ClinGen CA1345087
- NCI-TCGA Cosmic COSV6581
- ClinVar RCV003060570
- Uncertain significance
- not provided; Renal tubular dysgenesis of genetic origin; Familial juvenile hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.04
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Renal tubular dysgenesis of genetic origin; Famili)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)