A185V (p.Ala185Val) variant of SCN5A (Nav1.5)
A185V (p.Ala185Val) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; SCN5A-related disorder; Sick sinus syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A185V (p.Ala185Val) variant details
- p.Ala185Val
- rs199473067
- ClinGen CA019348
- cosmic curated COSV10520
- ClinVar RCV000058792
- Uncertain significance
- Cardiac arrhythmia; SCN5A-related disorder; Sick sinus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.60
- ESM-1b 0.75
- AlphaMissense 0.15
- MetaLR 0.88
- MetaSVM 0.60
- CADD 24.30
- ClinVar: Uncertain significance (Cardiac arrhythmia; SCN5A-related disorder; Sick sinus syndrome)
- EBI: Variant of uncertain significance (in BRGDA1)
- UniProt: Uncertain significance (in BRGDA1)
- Most common in the REMAINING population (allele frequency 5e-05)
- 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)