D16N (p.Asp16Asn) variant of KCNH2 (hERG)
D16N (p.Asp16Asn) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- ExAC rs770772057
- gnomAD rs770772057
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- ESM-1b 1.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 98.8