D130H (p.Asp130His) variant of CALM1 (Calmodulin-1)
D130H (p.Asp130His) in CALM1 (Calmodulin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
D130H (p.Asp130His) variant details
- p.Asp130His
- rs1568666846
- ClinGen CA406473530
- ClinVar RCV000705754
- Ensembl rs1568666846
- Uncertain significance
- in LQT14
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.93
- MutPred 0.78
- EBI: Variant of uncertain significance (in LQT14)
- UniProt: Uncertain significance (in LQT14)
- 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)