I53V (p.Ile53Val) variant of CALM1 (Calmodulin-1)
I53V (p.Ile53Val) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- rs1553431807
- ClinGen CA346719813
- ClinVar RCV000555733
- Ensembl rs1553431807
- Uncertain significance
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.45
- MetaLR 0.49
- MetaSVM 0.03
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)