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 0.96 / 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 0.963
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: not provided (Congenital long QT syndrome)
- UniProt: Not provided
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 131