A40T (p.Ala40Thr) variant of PIK3CD (O00329)
A40T (p.Ala40Thr) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD 1-9710573-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.33
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available