A98V (p.Ala98Val) variant of SCN1A (Nav1.1)
A98V (p.Ala98Val) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
A98V (p.Ala98Val) variant details
- p.Ala98Val
- rs2105918454
- ClinGen CA349077190
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10032
- Uncertain significance
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Early-infantile DEE)
- EBI: Variant of uncertain significance (in DRVT)
- UniProt: Uncertain significance (in DRVT)
- Population evidence available
- Structural context available