R8Q (p.Arg8Gln) variant of SCN5A (Nav1.5)
R8Q (p.Arg8Gln) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Cardiac arrhythmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs564261427
- ClinGen CA056648
- cosmic curated COSV10964
- ClinVar RCV000619935
- Uncertain significance
- not provided; Cardiovascular phenotype; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM 0.09
- CADD 23.10
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Cardiac arrhythmia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0001)
- Structural context available