L24V (p.Leu24Val) variant of PIK3R1 (P27986)
L24V (p.Leu24Val) in PIK3R1 (P27986) 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.
L24V (p.Leu24Val) variant details
- p.Leu24Val
- ExAC rs748433931
- gnomAD rs748433931
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available