I29V (p.Ile29Val) variant of PIK3R1 (P27986)
I29V (p.Ile29Val) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
I29V (p.Ile29Val) variant details
- p.Ile29Val
- gnomAD 5-68226760-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0865
- REVEL 0.05
- CADD 7.94
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available