T76A (p.Thr76Ala) variant of PIK3CD (O00329)
T76A (p.Thr76Ala) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- gnomAD 1-9715625-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.17
- MetaLR 0.29
- MetaSVM -0.61
- CADD 22.30
- PolyPhen-2 0.20
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available