A107S (p.Ala107Ser) variant of SCN1A (P35498)
A107S (p.Ala107Ser) 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 0.77 / 1. The record also includes population frequency data and structural context.
A107S (p.Ala107Ser) variant details
- p.Ala107Ser
- rs745404213
- ClinGen CA1943536
- ClinVar RCV006465848
- ExAC rs745404213
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available