A32V (p.Ala32Val) variant of KCNH2 (hERG)
A32V (p.Ala32Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes experimental measurements, published literature, and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- rs1801941580
- ClinGen CA369865988
- ClinVar RCV001089534
- Ensembl rs1801941580
- Pathogenic
- Long QT syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Pathogenic (Long QT syndrome 2)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)