G135D (p.Gly135Asp) variant of CALM2 (Calmodulin-2)
G135D (p.Gly135Asp) in CALM2 (Calmodulin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
G135D (p.Gly135Asp) variant details
- p.Gly135Asp
- rs1471376840
- ClinGen CA406473650
- ClinVar RCV004577361
- ClinVar RCV004996065
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- AlphaMissense 0.99
- MetaLR 0.75
- MetaSVM 0.71
- MutPred 0.81
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)