A30T (p.Ala30Thr) variant of SCN2A (Q99250)
A30T (p.Ala30Thr) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- rs1337092354
- ClinGen CA349009913
- ClinVar RCV000696489
- gnomAD rs1337092354
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.50
- ESM-1b 0.86
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.89
- CADD 22.80
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)