p.Leu12 Tyr13del variant of PIK3R2 (O00459)
p.Leu12 Tyr13del in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu12 Tyr13del variant details
- rs2043672894
- gnomAD 19-18155912-TCTGT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available