D96G (p.Asp96Gly) variant of CALM2 (Calmodulin-2)
D96G (p.Asp96Gly) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
D96G (p.Asp96Gly) variant details
- p.Asp96Gly
- rs2139771574
- ClinGen CA390690101
- ClinVar RCV002211276
- Ensembl rs2139771574
- Pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.83
- MetaLR 0.20
- MetaSVM -0.69
- PolyPhen-2 0.53
- MutPred 0.68
- ClinVar: Pathogenic (Long QT syndrome 1)
- EBI: Variant of uncertain significance (in LQT15)
- UniProt: Uncertain significance (in LQT15)
- Structural context available