I42N (p.Ile42Asn) variant of KCNH2 (hERG)
I42N (p.Ile42Asn) 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.
I42N (p.Ile42Asn) variant details
- p.Ile42Asn
- rs199473488
- ClinGen CA004330
- ClinVar RCV000057879
- Ensembl rs199473488
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- CADD 32.00
- PolyPhen-2 0.94
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 0