N39H (p.Asn39His) variant of PIK3CD (O00329)
N39H (p.Asn39His) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N39H (p.Asn39His) variant details
- p.Asn39His
- gnomAD 1-9710570-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.90
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available