R52C (p.Arg52Cys) variant of KCNJ5 (P48544)
R52C (p.Arg52Cys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial hyperaldosteronism type III. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- rs1170740594
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57964
- TOPMed rs1170740594
- Uncertain significance
- Familial hyperaldosteronism type III
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.91
- MetaLR 0.89
- MetaSVM 0.96
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hyperaldosteronism type III)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available