I45M (p.Ile45Met) variant of GNAT1 (P11488)
I45M (p.Ile45Met) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
I45M (p.Ile45Met) variant details
- p.Ile45Met
- gnomAD 3-50193161-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.62
- CADD 22.50
- PolyPhen-2 0.70
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available