Y9C (p.Tyr9Cys) variant of PIK3R2 (O00459)
Y9C (p.Tyr9Cys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y9C (p.Tyr9Cys) variant details
- p.Tyr9Cys
- gnomAD 19-18155905-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.52
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available