A78P (p.Ala78Pro) variant of KCNH2 (hERG)
A78P (p.Ala78Pro) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
A78P (p.Ala78Pro) variant details
- p.Ala78Pro
- rs199472848
- ClinGen CA006454
- ClinVar RCV000058107
- UniProt VAR 008913
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- AlphaMissense 0.61
- MetaLR 0.98
- MetaSVM 1.12
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.85
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)