R4W (p.Arg4Trp) variant of SCN8A (Q9UQD0)
R4W (p.Arg4Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs1940949996
- ClinGen CA385227396
- cosmic curated COSV10591
- ClinVar RCV001320296
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.53
- ESM-1b 0.50
- AlphaMissense 0.29
- MetaLR 0.80
- MetaSVM 0.78
- CADD 26.60
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available