V3L (p.Val3Leu) variant of KCNH2 (hERG)
V3L (p.Val3Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- rs2486167529
- ClinGen CA369866783
- ClinVar RCV004015333
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.21
- CADD 26.00
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 93.4
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)