Y13P (p.Tyr13Pro) variant of PIK3R2 (O00459)
Y13P (p.Tyr13Pro) in PIK3R2 (O00459) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Y13P (p.Tyr13Pro) variant details
- p.Tyr13Pro
- gnomAD 19-18155913-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 29.60
- Population evidence available
- Structural context available
- Literature evidence available