T13N (p.Thr13Asn) variant of PIK3CD (O00329)
T13N (p.Thr13Asn) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T13N (p.Thr13Asn) variant details
- p.Thr13Asn
- gnomAD 1-9710493-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.05
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available