V38L (p.Val38Leu) variant of PIK3R1 (P27986)
V38L (p.Val38Leu) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- ExAC rs762496756
- gnomAD rs762496756
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.05
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available