D94N (p.Asp94Asn) variant of CALM2 (Calmodulin-2)
D94N (p.Asp94Asn) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Long QT syndrome 1. The record also includes variant effect predictions and structural context.
D94N (p.Asp94Asn) variant details
- p.Asp94Asn
- NCI-TCGA TCGA novel
- Pathogenic
- Long QT syndrome 1
- Missense
- MetaLR 0.86
- MetaSVM 0.79
- SIFT 0.00
- ClinVar: Pathogenic (Long QT syndrome 1)
- UniProt: Pathogenic
- Structural context available