F16L (p.Phe16Leu) variant of SCN2A (Q99250)
F16L (p.Phe16Leu) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
F16L (p.Phe16Leu) variant details
- p.Phe16Leu
- Ensembl rs1696476663
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.35
- MetaLR 0.68
- MetaSVM 0.24
- CADD 21.90
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- UniProt: Uncertain significance
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available