V112M (p.Val112Met) variant of PIK3CB (P42338)
V112M (p.Val112Met) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
V112M (p.Val112Met) variant details
- p.Val112Met
- cosmic curated COSV10586
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 24.70
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)