P53S (p.Pro53Ser) variant of SCN8A (Q9UQD0)
P53S (p.Pro53Ser) 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 0.72 / 1. The record also includes structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- rs1940954610
- ClinGen CA385228088
- ClinVar RCV001349710
- Ensembl rs1940954610
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.90
- MetaSVM 0.88
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available