P50T (p.Pro50Thr) variant of PIK3R1 (P27986)
P50T (p.Pro50Thr) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P50T (p.Pro50Thr) variant details
- p.Pro50Thr
- gnomAD 5-68226823-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.45
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available