A103V (p.Ala103Val) variant of CALM1 (Calmodulin-1)
A103V (p.Ala103Val) in CALM1 (Calmodulin-1) 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 0.53 / 1. The record also includes published literature and structural context.
A103V (p.Ala103Val) variant details
- p.Ala103Val
- rs1568666713
- ClinGen CA406473026
- ClinVar RCV000702453
- Ensembl rs1568666713
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.86
- MetaLR 0.48
- MetaSVM 0.07
- MutPred 0.72
- 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)