P63S (p.Pro63Ser) variant of SCN2A (Q99250)
P63S (p.Pro63Ser) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- rs1064797259
- ClinGen CA16621759
- cosmic curated COSV51845
- ClinVar RCV000487613
- Uncertain significance
- not provided; Seizures, benign familial infantile, 3; Developmental and epilepti
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.99
- CADD 25.30
- ClinVar: Uncertain significance (not provided; Seizures, benign familial infantile, 3; Developmen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)