F17L (p.Phe17Leu) variant of SCN8A (Q9UQD0)
F17L (p.Phe17Leu) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
F17L (p.Phe17Leu) variant details
- p.Phe17Leu
- rs1592363287
- ClinGen CA385227505
- ClinVar RCV000795327
- Ensembl rs1592363287
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available