N54S (p.Asn54Ser) variant of CALM1 (Calmodulin-1)
N54S (p.Asn54Ser) in CALM1 (Calmodulin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in CPVT4. The record also includes variant effect predictions and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- cosmic curated COSV10968
- TOPMed rs267607276
- gnomAD rs267607276
- Likely pathogenic
- in CPVT4
- Missense
- MetaLR 0.32
- MetaSVM -0.57
- SIFT 0.02
- EBI: Likely pathogenic (in CPVT4)
- UniProt: Likely pathogenic (in CPVT4)
- Structural context available