Y87C (p.Tyr87Cys) variant of SCN8A (Q9UQD0)
Y87C (p.Tyr87Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
Y87C (p.Tyr87Cys) variant details
- p.Tyr87Cys
- rs2138671507
- ClinGen CA385228544
- ClinVar RCV001755637
- ClinVar RCV005095090
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- ESM-1b 1.00
- AlphaMissense 0.61
- MetaLR 0.93
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available