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 record also includes variant effect predictions, experimental measurements, and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- ExAC rs770772057
- gnomAD rs770772057
- Uncertain significance
- Long QT syndrome
- Missense
- MetaLR 0.84
- MetaSVM 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 98.8