F29L (p.Phe29Leu) variant of KCNH2 (hERG)
F29L (p.Phe29Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F29L (p.Phe29Leu) variant details
- p.Phe29Leu
- rs199472830
- ClinGen CA369866018
- ClinVar RCV002373704
- ClinGen CA008941
- Likely pathogenic
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.11
- CADD 27.80
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available
- Scores from arrayed automated patch clamp experiment for KCNH2: score 0.37
- Cited in: Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel… (PMID 10187793)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)