I25V (p.Ile25Val) variant of SCN2A (Q99250)
I25V (p.Ile25Val) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I25V (p.Ile25Val) variant details
- p.Ile25Val
- rs767145207
- ClinGen CA1939544
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99333
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.13
- MetaLR 0.93
- MetaSVM 1.07
- CADD 23.10
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)