N39S (p.Asn39Ser) variant of PIK3CD (O00329)
N39S (p.Asn39Ser) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
N39S (p.Asn39Ser) variant details
- p.Asn39Ser
- gnomAD 1-9710571-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.10
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available