P52S (p.Pro52Ser) variant of SCN2A (Q99250)
P52S (p.Pro52Ser) in SCN2A (Q99250) 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 0.92 / 1. The record also includes structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- cosmic curated COSV51847
- ExAC rs749676317
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- ESM-1b 1.00
- AlphaMissense 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available