D40N (p.Asp40Asn) variant of SCN1A (P35498)
D40N (p.Asp40Asn) in SCN1A (P35498) 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 0.50 / 1. The record also includes structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- rs1574373061
- ClinGen CA349243162
- ClinVar RCV004719990
- ClinVar RCV006464264
- Conflicting interpretations
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.00
- PolyPhen-2 0.01
- SIFT 0.01
- EVE 0.17
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available