I25S (p.Ile25Ser) variant of SCN2A (Q99250)
I25S (p.Ile25Ser) 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 0.90 / 1. The record also includes structural context.
I25S (p.Ile25Ser) variant details
- p.Ile25Ser
- rs1366486532
- ClinGen CA349009866
- ClinVar RCV001753391
- TOPMed rs1366486532
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- ESM-1b 1.00
- AlphaMissense 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available