C44W (p.Cys44Trp) variant of KCNH2 (hERG)
C44W (p.Cys44Trp) 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 1.00 / 1. The record also includes experimental measurements and structural context.
C44W (p.Cys44Trp) variant details
- p.Cys44Trp
- rs199472838
- ClinGen CA004471
- ClinVar RCV000057894
- TOPMed rs199472838
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0