A11T (p.Ala11Thr) variant of PIK3R2 (O00459)
A11T (p.Ala11Thr) 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 0.48 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- ExAC rs751392338
- gnomAD rs751392338
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.33
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available