A50T (p.Ala50Thr) variant of PIK3CB (P42338)
A50T (p.Ala50Thr) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- ESP rs375632149
- TOPMed rs375632149
- gnomAD rs375632149
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 21.10
- PolyPhen-2 0.17
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 4.8e-05)