P39T (p.Pro39Thr) variant of SCN1A (P35498)
P39T (p.Pro39Thr) in SCN1A (P35498) 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 0.54 / 1. The record also includes population frequency data and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- rs968754992
- ClinGen CA60270528
- ClinVar RCV006465955
- TOPMed rs968754992
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 0.34
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available