I101V (p.Ile101Val) variant of CALM1 (Calmodulin-1)
I101V (p.Ile101Val) 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 0.45 / 1. The record also includes published literature and structural context.
I101V (p.Ile101Val) variant details
- p.Ile101Val
- rs1595102592
- ClinGen CA390690134
- ClinVar RCV000798107
- Ensembl rs1595102592
- Uncertain significance
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- AlphaMissense 0.29
- MetaLR 0.38
- MetaSVM -0.29
- PolyPhen-2 0.35
- MutPred 0.67
- 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)