F22S (p.Phe22Ser) variant of KCNH2 (hERG)
F22S (p.Phe22Ser) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes experimental measurements and structural context.
F22S (p.Phe22Ser) variant details
- p.Phe22Ser
- rs199472826
- ClinGen CA008663
- ClinVar RCV000058246
- Ensembl rs199472826
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.05
- CADD 28.80
- PolyPhen-2 1.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 131