F22V (p.Phe22Val) variant of KCNH2 (hERG)
F22V (p.Phe22Val) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F22V (p.Phe22Val) variant details
- p.Phe22Val
- rs2117072572
- ClinGen CA369866641
- ClinVar RCV001973145
- ClinVar RCV004044696
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- CADD 33.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.1e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 131
- 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)