P50L (p.Pro50Leu) variant of PIK3R1 (P27986)
P50L (p.Pro50Leu) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- gnomAD 5-68226824-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.49
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available