R30C (p.Arg30Cys) variant of KCNJ5 (P48544)
R30C (p.Arg30Cys) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hyperaldosteronism type III; Long QT syndrome 13; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R30C (p.Arg30Cys) variant details
- p.Arg30Cys
- rs1565551461
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV5796
- cosmic curated COSV57966
- Uncertain significance
- Familial hyperaldosteronism type III; Long QT syndrome 13; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.57
- MetaLR 0.82
- MetaSVM 0.76
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hyperaldosteronism type III; Long QT syndrome 13; Long)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available