D123N (p.Asp123Asn) variant of CALM2 (Calmodulin-2)
D123N (p.Asp123Asn) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D123N (p.Asp123Asn) variant details
- p.Asp123Asn
- rs2122249867
- ClinGen CA406473365
- ClinVar RCV001896263
- Ensembl rs2122249867
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.74
- MetaLR 0.23
- MetaSVM -0.63
- MutPred 0.47
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)