E81K (p.Glu81Lys) variant of PIK3CD (O00329)
E81K (p.Glu81Lys) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- gnomAD 1-9715640-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.66
- MetaLR 0.65
- MetaSVM 0.34
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available