N38S (p.Asn38Ser) variant of KCNH2 (hERG)
N38S (p.Asn38Ser) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes experimental measurements and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- TOPMed rs1314433712
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- ESM-1b 1.00
- AlphaMissense 0.44
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 73.3