R45W (p.Arg45Trp) variant of SCN8A (Q9UQD0)
R45W (p.Arg45Trp) 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 0.62 / 1. The record also includes population frequency data and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs373541157
- ClinGen CA6570998
- ClinVar RCV002275873
- ClinVar RCV005058214
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.67
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.92
- MetaSVM 1.00
- CADD 27.50
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available