A40V (p.Ala40Val) variant of SCN8A (Q9UQD0)
A40V (p.Ala40Val) 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 0.38 / 1. The record also includes structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- rs2138671122
- ClinGen CA385227814
- ClinVar RCV001893999
- Ensembl rs2138671122
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.68
- MetaSVM -0.12
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available