I52Y (p.Ile52Tyr) variant of GNAT1 (P11488)
I52Y (p.Ile52Tyr) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I52Y (p.Ile52Tyr) variant details
- p.Ile52Tyr
- gnomAD 3-50193267-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 28.90
- Population evidence available
- Structural context available
- Literature evidence available