P44L (p.Pro44Leu) variant of CALM3 (Calmodulin-3)
P44L (p.Pro44Leu) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs1599758674
- ClinGen CA406472055
- ClinVar RCV002234358
- Ensembl rs1599758674
- Uncertain significance
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.98
- MetaLR 0.49
- MetaSVM 0.14
- MutPred 0.68
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)