M9T (p.Met9Thr) variant of PIK3CD (O00329)
M9T (p.Met9Thr) 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.
M9T (p.Met9Thr) variant details
- p.Met9Thr
- gnomAD 1-9710481-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available