I52T (p.Ile52Thr) variant of GNAT1 (P11488)
I52T (p.Ile52Thr) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- gnomAD 3-50193269-ATC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 28.50
- Population evidence available
- Structural context available
- Literature evidence available