D94H (p.Asp94His) variant of CALM1 (Calmodulin-1)
D94H (p.Asp94His) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.92 / 1. The record also includes published literature and structural context.
D94H (p.Asp94His) variant details
- p.Asp94His
- rs1887099943
- ClinGen CA390690072
- ClinVar RCV001216383
- Ensembl rs1887099943
- Uncertain significance
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- MutPred 0.74
- ClinVar: Uncertain significance (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)