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 0.91 / 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 0.912
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.45
- SIFT 0.00
- MutPred 0.78
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0