L134V (p.Leu134Val) variant of PIK3CB (P42338)
L134V (p.Leu134Val) in PIK3CB (P42338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L134V (p.Leu134Val) variant details
- p.Leu134Val
- gnomAD rs1450143044
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 22.40
- PolyPhen-2 0.74
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available