N98S (p.Asn98Ser) variant of CALM1 (Calmodulin-1)
N98S (p.Asn98Ser) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Long QT syndrome 14; Catecholaminergic polymorphic ven. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
N98S (p.Asn98Ser) variant details
- p.Asn98Ser
- rs398124647
- ClinGen CA186025
- ClinVar RCV000143836
- ClinVar RCV000162067
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Long QT syndrome 14; Catecholaminergic polymorphic ven
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.29
- MetaLR 0.49
- MetaSVM 0.03
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Long QT syndrome 14; Catecholaminergic)
- EBI: Pathogenic (in CPVT4)
- UniProt: Pathogenic (in CPVT4)
- Structural context available
- Cited in: Novel calmodulin mutations associated with congenital arrhythmia susceptibility. (PMID 24917665)
- Cited in: Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID 26164367)