P47A (p.Pro47Ala) variant of PIK3CB (P42338)
P47A (p.Pro47Ala) in PIK3CB (P42338) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
P47A (p.Pro47Ala) variant details
- p.Pro47Ala
- ExAC rs770363808
- TOPMed rs770363808
- gnomAD rs770363808
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- CADD 21.90
- PolyPhen-2 0.23
- SIFT 0.27
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)