A58P (p.Ala58Pro) variant of CALM3 (Calmodulin-3)
A58P (p.Ala58Pro) 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 0.71 / 1. The record also includes published literature and structural context.
A58P (p.Ala58Pro) variant details
- p.Ala58Pro
- rs2103825594
- ClinGen CA346719732
- ClinVar RCV001765233
- ClinVar RCV005094951
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.59
- SIFT 0.00
- MutPred 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)