L15V (p.Leu15Val) variant of KCNH2 (hERG)
L15V (p.Leu15Val) 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 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- rs1452324629
- ClinGen CA369866700
- ClinVar RCV002756695
- gnomAD rs1452324629
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.73
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 80.1
- 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)