D84N (p.Asp84Asn) variant of PIK3CD (O00329)
D84N (p.Asp84Asn) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D84N (p.Asp84Asn) variant details
- p.Asp84Asn
- gnomAD 1-9715649-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.67
- MetaLR 0.71
- MetaSVM 0.45
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available