F29S (p.Phe29Ser) variant of KCNH2 (hERG)
F29S (p.Phe29Ser) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar 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 0.90 / 1. The record also includes experimental measurements and structural context.
F29S (p.Phe29Ser) variant details
- p.Phe29Ser
- rs199472831
- ClinGen CA008920
- ClinVar RCV000058265
- Ensembl rs199472831
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.15
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 110