F100L (p.Phe100Leu) variant of SCN1A (P35498)
F100L (p.Phe100Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
F100L (p.Phe100Leu) variant details
- p.Phe100Leu
- rs2105918428
- ClinGen CA349077150
- ClinVar RCV006557990
- Ensembl rs2105918428
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 0.18
- SIFT 0.00
- EVE 0.67
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available