G97A (p.Gly97Ala) variant of CALM1 (Calmodulin-1)
G97A (p.Gly97Ala) 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.
G97A (p.Gly97Ala) variant details
- p.Gly97Ala
- NCI-TCGA Cosmic COSV5539
- cosmic curated COSV55399
- Uncertain significance
- Long QT syndrome 14; Catecholaminergic polymorphic ventricular tachycardia 4
- Missense
- MetaLR 0.69
- MetaSVM 0.48
- SIFT 0.41
- ClinVar: Uncertain significance (Long QT syndrome 14; Catecholaminergic polymorphic ventricular t)
- UniProt: Uncertain significance
- Structural context available