E105Q (p.Glu105Gln) variant of CALM2 (Calmodulin-2)
E105Q (p.Glu105Gln) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Long QT syndrome 15. The record also includes variant effect predictions and structural context.
E105Q (p.Glu105Gln) variant details
- p.Glu105Gln
- cosmic curated COSV52194
- Likely pathogenic
- Long QT syndrome 15
- Missense
- MetaLR 0.42
- MetaSVM -0.26
- SIFT 0.05
- ClinVar: Likely pathogenic (Long QT syndrome 15)
- UniProt: Likely pathogenic
- Structural context available