P73S (p.Pro73Ser) variant of SCN8A (Q9UQD0)
P73S (p.Pro73Ser) 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 0.89 / 1. The record also includes structural context.
P73S (p.Pro73Ser) variant details
- p.Pro73Ser
- rs2540119660
- ClinGen CA385228362
- ClinVar RCV003753740
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- ESM-1b 1.00
- AlphaMissense 0.75
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available