C49W (p.Cys49Trp) variant of KCNH2 (hERG)
C49W (p.Cys49Trp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes experimental measurements and structural context.
C49W (p.Cys49Trp) variant details
- p.Cys49Trp
- rs794728410
- ClinGen CA004708
- ClinVar RCV000181930
- gnomAD rs794728410
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0