D16V (p.Asp16Val) variant of PIK3CB (P42338)
D16V (p.Asp16Val) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- ExAC rs766489153
- TOPMed rs766489153
- gnomAD rs766489153
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- CADD 26.30
- PolyPhen-2 0.49
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)