L24W (p.Leu24Trp) variant of PIK3R1 (P27986)
L24W (p.Leu24Trp) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L24W (p.Leu24Trp) variant details
- p.Leu24Trp
- ExAC rs770742875
- gnomAD rs770742875
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.48
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available