Q39K (p.Gln39Lys) variant of SCN2A (Q99250)
Q39K (p.Gln39Lys) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q39K (p.Gln39Lys) variant details
- p.Gln39Lys
- rs757194863
- ClinGen CA1939548
- ClinVar RCV002033493
- ExAC rs757194863
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.65
- MetaSVM -0.56
- CADD 16.30
- 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 0.00046)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)