S32N (p.Ser32Asn) variant of SCN8A (Q9UQD0)
S32N (p.Ser32Asn) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- rs375419028
- ClinGen CA6570994
- ClinVar RCV000802422
- ClinVar RCV001091241
- Conflicting interpretations
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.66
- MetaSVM -0.26
- CADD 23.30
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.023)
- Structural context available