A61V (p.Ala61Val) variant of SCN8A (Q9UQD0)
A61V (p.Ala61Val) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
A61V (p.Ala61Val) variant details
- p.Ala61Val
- rs2138671327
- ClinGen CA385228198
- ClinVar RCV001776773
- Ensembl rs2138671327
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- ESM-1b 1.00
- AlphaMissense 0.46
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available