Q28E (p.Gln28Glu) variant of KCNJ5 (P48544)
Q28E (p.Gln28Glu) 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; Cardiovascular phenot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- TOPMed rs1944494472
- gnomAD rs1944494472
- Uncertain significance
- Familial hyperaldosteronism type III; Long QT syndrome 13; Cardiovascular phenot
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.41
- MetaLR 0.64
- MetaSVM 0.01
- CADD 13.70
- PolyPhen-2 0.15
- SIFT 0.07
- ClinVar: Uncertain significance (Familial hyperaldosteronism type III; Long QT syndrome 13; Cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available