N45D (p.Asn45Asp) variant of KCNH2 (hERG)
N45D (p.Asn45Asp) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes experimental measurements and structural context.
N45D (p.Asn45Asp) variant details
- p.Asn45Asp
- Ensembl rs199472839
- Uncertain significance
- in LQT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- EBI: 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 0