L31Q (p.Leu31Gln) variant of PIK3R2 (O00459)
L31Q (p.Leu31Gln) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L31Q (p.Leu31Gln) variant details
- p.Leu31Gln
- Ensembl rs2147944804
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.41
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available