D55N (p.Asp55Asn) variant of SCN2A (Q99250)
D55N (p.Asp55Asn) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Seizures, benign familial infantile, 3; Developmental and epilepti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- rs2467838667
- ClinGen CA349010260
- ClinVar RCV003801129
- ClinVar RCV004801404
- Uncertain significance
- not provided; Seizures, benign familial infantile, 3; Developmental and epilepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.70
- MetaLR 0.96
- MetaSVM 1.09
- CADD 28.30
- ClinVar: Uncertain significance (not provided; Seizures, benign familial infantile, 3; Developmen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)