I53V (p.Ile53Val) variant of CALM3 (Calmodulin-3)
I53V (p.Ile53Val) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- rs1553431807
- ClinGen CA346719813
- ClinVar RCV000555733
- Ensembl rs1553431807
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.46
- MetaLR 0.49
- MetaSVM 0.03
- SIFT 0.01
- MutPred 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)