P9A (p.Pro9Ala) variant of SCN1A (P35498)
P9A (p.Pro9Ala) 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 0.71 / 1. The record also includes population frequency data and structural context.
P9A (p.Pro9Ala) variant details
- p.Pro9Ala
- rs757688309
- ClinGen CA60270535
- ClinVar RCV006465228
- TOPMed rs757688309
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.24
- MetaLR 0.88
- MetaSVM 0.76
- CADD 25.00
- PolyPhen-2 0.10
- SIFT 0.02
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available