D123N (p.Asp123Asn) variant of CALM3 (Calmodulin-3)
D123N (p.Asp123Asn) in CALM3 (Calmodulin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 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
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.25
- MetaLR 0.23
- MetaSVM -0.63
- CADD 24.60
- PolyPhen-2 0.05
- SIFT 0.08
- ClinVar: Uncertain significance (Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)