L34F (p.Leu34Phe) variant of SCN8A (Q9UQD0)
L34F (p.Leu34Phe) 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 0.40 / 1. The record also includes population frequency data and structural context.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- rs1940952445
- ClinGen CA385227711
- ClinVar RCV001916016
- TOPMed rs1940952445
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.30
- ESM-1b 0.12
- AlphaMissense 0.12
- MetaLR 0.63
- MetaSVM -0.07
- CADD 22.60
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available