R230K (p.Arg230Lys) variant of REN (Renin)
R230K (p.Arg230Lys) in REN (Renin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Renal tubular dysgenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R230K (p.Arg230Lys) variant details
- p.Arg230Lys
- rs121917742
- ClinGen CA122848
- ClinVar RCV000014004
- UniProt VAR 035087
- Pathogenic
- Renal tubular dysgenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.57
- CADD 33.00
- PolyPhen-2 0.56
- SIFT 0.01
- ClinVar: Pathogenic (Renal tubular dysgenesis)
- EBI: Pathogenic (in RTD)
- UniProt: Pathogenic (in RTD)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. (PMID 16116425)