A204V (p.Ala204Val) variant of SCN5A (Nav1.5)
A204V (p.Ala204Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
A204V (p.Ala204Val) variant details
- p.Ala204Val
- rs199473559
- ClinGen CA019639
- NCI-TCGA Cosmic COSV6111
- cosmic curated COSV61118
- Conflicting interpretations
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 33.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Cardiac arrhythmia; not provided)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Most common in the South Asian population (allele frequency 0.00021)
- 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)