N54S (p.Asn54Ser) variant of CALM2 (Calmodulin-2)
N54S (p.Asn54Ser) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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
- Missense
- MetaLR 0.49
- MetaSVM 0.03
- SIFT 0.03
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available