I51D (p.Ile51Asp) variant of GNAT1 (P11488)
I51D (p.Ile51Asp) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
I51D (p.Ile51Asp) variant details
- p.Ile51Asp
- gnomAD 3-50193264-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.889
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available