P11A (p.Pro11Ala) variant of SCN2A (Q99250)
P11A (p.Pro11Ala) 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 0.46 / 1. The record also includes structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs2106148959
- ClinGen CA349009710
- ClinVar RCV001776391
- Ensembl rs2106148959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- ESM-1b 0.33
- AlphaMissense 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available