A32T (p.Ala32Thr) variant of KCNH2 (hERG)
A32T (p.Ala32Thr) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs199472834
- ClinGen CA009024
- ClinVar RCV000058278
- ClinVar RCV001841762
- Uncertain significance
- Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)