N24D (p.Asn24Asp) variant of SCN8A (Q9UQD0)
N24D (p.Asn24Asp) 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 0.40 / 1. The record also includes population frequency data and structural context.
N24D (p.Asn24Asp) variant details
- p.Asn24Asp
- rs1170755479
- ClinGen CA385227577
- ClinVar RCV000796706
- TOPMed rs1170755479
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.74
- MetaSVM 0.59
- CADD 23.40
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.081)
- Structural context available