L12M (p.Leu12Met) variant of PIK3R2 (O00459)
L12M (p.Leu12Met) in PIK3R2 (O00459) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- gnomAD rs1308748759
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.52
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available