P8Q (p.Pro8Gln) variant of SCN2A (Q99250)
P8Q (p.Pro8Gln) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P8Q (p.Pro8Gln) variant details
- p.Pro8Gln
- rs747139785
- ClinGen CA349009684
- NCI-TCGA Cosmic COSV9932
- cosmic curated COSV99329
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.40
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)