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 0.72 / 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 0.723
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.011)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)