N24S (p.Asn24Ser) variant of SCN8A (Q9UQD0)
N24S (p.Asn24Ser) 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; Developmental and epileptic encephalopathy, 13; Cognitive i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs769269501
- ClinGen CA6570989
- ClinVar RCV000768310
- ClinVar RCV002370026
- Uncertain significance
- Early-infantile DEE; Developmental and epileptic encephalopathy, 13; Cognitive i
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.75
- MetaSVM 0.50
- CADD 21.30
- ClinVar: Uncertain significance (Early-infantile DEE; Developmental and epileptic encephalopathy,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders. (PMID 27559564)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)