D96V (p.Asp96Val) variant of CALM1 (Calmodulin-1)
D96V (p.Asp96Val) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
D96V (p.Asp96Val) variant details
- p.Asp96Val
- rs730882254
- ClinGen CA186019
- ClinVar RCV000162065
- ClinVar RCV001547926
- Pathogenic
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.99
- MetaLR 0.31
- MetaSVM -0.40
- SIFT 0.00
- ClinVar: Pathogenic (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Calmodulin mutations associated with recurrent cardiac arrest in infants. (PMID 23388215)
- Cited in: Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID 26164367)