M110L (p.Met110Leu) variant of CALM3 (Calmodulin-3)
M110L (p.Met110Leu) 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 0.50 / 1. The record also includes published literature and structural context.
M110L (p.Met110Leu) variant details
- p.Met110Leu
- rs2139771638
- ClinGen CA390690191
- ClinVar RCV001921674
- Ensembl rs2139771638
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.49
- MetaLR 0.42
- MetaSVM -0.13
- PolyPhen-2 0.68
- MutPred 0.71
- 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)