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 0.87 / 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 0.869
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.15
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.75
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0