K28E (p.Lys28Glu) variant of KCNH2 (hERG)
K28E (p.Lys28Glu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements and structural context.
K28E (p.Lys28Glu) variant details
- p.Lys28Glu
- rs199472829
- ClinGen CA008871
- ClinVar RCV000058261
- Ensembl rs199472829
- Pathogenic
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.88
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.43
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (Congenital long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 76.9