A67S (p.Ala67Ser) variant of PIK3CD (O00329)
A67S (p.Ala67Ser) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A67S (p.Ala67Ser) variant details
- p.Ala67Ser
- gnomAD 1-9715598-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.17
- MetaLR 0.15
- MetaSVM -0.91
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.59
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available