P2S (p.Pro2Ser) variant of PIK3CD (O00329)
P2S (p.Pro2Ser) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- gnomAD 1-9710459-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.61
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available