P50Q (p.Pro50Gln) variant of SCN2A (Q99250)
P50Q (p.Pro50Gln) 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 published literature and structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- rs2106149256
- ClinGen CA349010186
- cosmic curated COSV99332
- ClinVar RCV002274562
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- ESM-1b 0.72
- AlphaMissense 0.29
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)