N38S (p.Asn38Ser) variant of KCNH2 (hERG)
N38S (p.Asn38Ser) in KCNH2 (hERG) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
N38S (p.Asn38Ser) variant details
- p.Asn38Ser
- TOPMed rs1314433712
- Missense
- MetaLR 0.95
- MetaSVM 1.07
- SIFT 0.00
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 73.3