V146M (p.Val146Met) variant of SCN5A (Q14524)
V146M (p.Val146Met) in SCN5A (Q14524) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiac arrhythmia; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V146M (p.Val146Met) variant details
- p.Val146Met
- rs199473061
- ClinGen CA018183
- cosmic curated COSV61120
- ClinVar RCV000058666
- Conflicting interpretations
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.78
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Likely benign (in BRGDA1)
- UniProt: Likely benign (in BRGDA1)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada… (PMID 20129283)
- Cited in: Brugada Syndrome. (PMID 20301690)