Y12L (p.Tyr12Leu) variant of PIK3R1 (P27986)
Y12L (p.Tyr12Leu) in PIK3R1 (P27986) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Y12L (p.Tyr12Leu) variant details
- p.Tyr12Leu
- gnomAD 5-68226708-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available