D3N (p.Asp3Asn) variant of CALM2 (Calmodulin-2)
D3N (p.Asp3Asn) in CALM2 (Calmodulin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome 1. The record also includes variant effect predictions, population frequency data, and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- ExAC rs778455345
- gnomAD rs778455345
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 1
- Missense
- MetaLR 0.12
- MetaSVM -0.96
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 1)
- UniProt: Conflicting interpretations
- Population evidence available
- Structural context available