V5M (p.Val5Met) variant of SCN2A (Q99250)
V5M (p.Val5Met) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- rs2467837698
- ClinGen CA349009653
- ClinVar RCV003802822
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.74
- MetaSVM 0.66
- CADD 21.60
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 1)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)