V36L (p.Val36Leu) variant of CALM2 (Calmodulin-2)
V36L (p.Val36Leu) in CALM2 (Calmodulin-2) 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 0.10 / 1. The record also includes population frequency data, 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 0.098
- CADD 2.34
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)