R4Q (p.Arg4Gln) variant of SCN8A (Q9UQD0)
R4Q (p.Arg4Gln) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs751889285
- ClinGen CA6570985
- cosmic curated COSV61993
- ClinVar RCV000520832
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.54
- MetaSVM -0.13
- CADD 19.50
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available