N17S (p.Asn17Ser) variant of PIK3CD (O00329)
N17S (p.Asn17Ser) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- gnomAD 1-9710505-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0971
- REVEL 0.03
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available