R28H (p.Arg28His) variant of SCN8A (Q9UQD0)
R28H (p.Arg28His) 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 0.79 / 1. The record also includes population frequency data and structural context.
R28H (p.Arg28His) variant details
- p.Arg28His
- rs531796685
- ClinGen CA6570993
- cosmic curated COSV10648
- ClinVar RCV001918356
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.94
- MetaSVM 1.05
- CADD 27.80
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available