R87* (p.Arg87Ter) variant of CALM3 (Calmodulin-3)
R87* (p.Arg87Ter) in CALM3 (Calmodulin-3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R87* (p.Arg87Ter) variant details
- p.Arg87Ter
- rs1044180500
- ClinGen CA406472733
- ClinVar RCV002810356
- cosmic curated COSV99059
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 37.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)