V36L (p.Val36Leu) variant of CALM3 (Calmodulin-3)
V36L (p.Val36Leu) in CALM3 (Calmodulin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- rs1887015236
- ClinGen CA390689365
- ClinVar RCV001048231
- Ensembl rs1887015236
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.65
- MetaSVM 0.30
- PolyPhen-2 0.06
- MutPred 0.73
- 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)