P44L (p.Pro44Leu) variant of CALM2 (Calmodulin-2)
P44L (p.Pro44Leu) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- rs1599758674
- ClinGen CA406472055
- ClinVar RCV002234358
- Ensembl rs1599758674
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.82
- MetaLR 0.82
- MetaSVM 0.77
- CADD 29.90
- PolyPhen-2 0.97
- SIFT 1.00
- 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)