N98S (p.Asn98Ser) variant of CALM3 (Calmodulin-3)
N98S (p.Asn98Ser) in CALM3 (Calmodulin-3) 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 0.39 / 1. The record also includes published literature and structural context.
N98S (p.Asn98Ser) variant details
- p.Asn98Ser
- rs267607277
- ClinGen CA343812
- ClinVar RCV000032977
- ClinVar RCV000157134
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.14
- MetaLR 0.31
- MetaSVM -0.53
- PolyPhen-2 0.03
- MutPred 0.64
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. (PMID 23040497)
- Cited in: Distinctive malfunctions of calmodulin mutations associated with heart RyR2-mediated arrhythmic disease. (PMID 26164367)