D94A (p.Asp94Ala) variant of CALM2 (Calmodulin-2)
D94A (p.Asp94Ala) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D94A (p.Asp94Ala) variant details
- p.Asp94Ala
- rs1060502608
- ClinGen CA16616071
- ClinVar RCV000475293
- ClinVar RCV000786284
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- MutPred 0.73
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)