V284M (p.Val284Met) variant of PIK3R2 (O00459)
V284M (p.Val284Met) in PIK3R2 (O00459) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V284M (p.Val284Met) variant details
- p.Val284Met
- rs1212577459
- ClinGen CA404806745
- ClinVar RCV000984112
- TOPMed rs1212577459
- Likely pathogenic
- Multiple myeloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.04
- CADD 6.89
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available