M1501I (p.Met1501Ile) variant of SCN2A (Nav1.2)
M1501I (p.Met1501Ile) in SCN2A (Nav1.2) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations 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 0.85 / 1. The record also includes population frequency data and structural context.
M1501I (p.Met1501Ile) variant details
- p.Met1501Ile
- cosmic curated COSV51838
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.60
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- UniProt: Conflicting interpretations
- Population evidence available
- Structural context available