C44F (p.Cys44Phe) variant of KCNH2 (hERG)
C44F (p.Cys44Phe) 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 0.93 / 1. The record also includes experimental measurements and structural context.
C44F (p.Cys44Phe) variant details
- p.Cys44Phe
- rs199473489
- ClinGen CA004463
- ClinVar RCV000057893
- Ensembl rs199473489
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0