R45Q (p.Arg45Gln) variant of SCN8A (Q9UQD0)
R45Q (p.Arg45Gln) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs775601133
- ClinGen CA318311
- ClinVar RCV000189295
- ExAC rs775601133
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM 0.33
- CADD 23.20
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available