V67I (p.Val67Ile) variant of KCNJ5 (P48544)
V67I (p.Val67Ile) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- TOPMed rs1355039204
- gnomAD rs1355039204
- Uncertain significance
- Cardiovascular phenotype; Familial hyperaldosteronism type III; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.44
- MetaLR 0.62
- MetaSVM 0.29
- CADD 22.10
- PolyPhen-2 0.41
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial hyperaldosteronism type III;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available