D132N (p.Asp132Asn) variant of CALM2 (Calmodulin-2)
D132N (p.Asp132Asn) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT15. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
D132N (p.Asp132Asn) variant details
- p.Asp132Asn
- rs1595102640
- ClinGen CA390690352
- ClinVar RCV000792817
- Ensembl rs1595102640
- Pathogenic
- in LQT15
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- AlphaMissense 0.41
- MetaLR 0.27
- MetaSVM -0.59
- PolyPhen-2 0.24
- MutPred 0.72
- EBI: Pathogenic (in LQT15)
- UniProt: Pathogenic (in LQT15)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)