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 0.70 / 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
- UniProt VAR 008907
- Likely pathogenic
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.84
- CADD 25.00
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0066)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 110
- 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)