D48N (p.Asp48Asn) variant of SCN8A (Q9UQD0)
D48N (p.Asp48Asn) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- rs757582223
- ClinGen CA6571001
- ClinVar RCV000489713
- ClinVar RCV003766744
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.80
- MetaSVM 0.81
- CADD 23.10
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available