K31E (p.Lys31Glu) variant of CALM2 (Calmodulin-2)
K31E (p.Lys31Glu) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The record also includes structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- NCI-TCGA Cosmic COSV6366
- cosmic curated COSV63663
- Uncertain significance
- Long QT syndrome 1
- Missense
- ClinVar: Uncertain significance (Long QT syndrome 1)
- UniProt: Uncertain significance
- Structural context available