R43* (p.Arg43Ter) variant of SCN5A (Q14524)
R43* (p.Arg43Ter) in SCN5A (Q14524) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs1553607597
- ClinGen CA352158671
- NCI-TCGA Cosmic COSV6006
- cosmic curated COSV60067
- Pathogenic
- in LQT3
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 35.00
- EBI: Pathogenic (in LQT3)
- UniProt: Pathogenic (in LQT3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)