M52V (p.Met52Val) variant of CALM1 (Calmodulin-1)
M52V (p.Met52Val) in CALM1 (Calmodulin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4. The record also includes variant effect predictions and structural context.
M52V (p.Met52Val) variant details
- p.Met52Val
- NCI-TCGA Cosmic COSV9935
- cosmic curated COSV99355
- Uncertain significance
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- MetaLR 0.43
- MetaSVM -0.24
- SIFT 0.04
- ClinVar: Uncertain significance (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- UniProt: Uncertain significance
- Structural context available