Y13C (p.Tyr13Cys) variant of PIK3R2 (O00459)
Y13C (p.Tyr13Cys) in PIK3R2 (O00459) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
Y13C (p.Tyr13Cys) variant details
- p.Tyr13Cys
- gnomAD 19-18155917-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.31
- CADD 27.40
- PolyPhen-2 0.81
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available