Y55F (p.Tyr55Phe) variant of PIK3CD (O00329)
Y55F (p.Tyr55Phe) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Y55F (p.Tyr55Phe) variant details
- p.Tyr55Phe
- 1000Genomes rs576937504
- ExAC rs576937504
- TOPMed rs576937504
- gnomAD rs576937504
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.07
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.82
- CADD 21.10
- PolyPhen-2 0.85
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available