A5P (p.Ala5Pro) variant of GNAT1 (P11488)
A5P (p.Ala5Pro) in GNAT1 (P11488) 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.
A5P (p.Ala5Pro) variant details
- p.Ala5Pro
- gnomAD 3-50191734-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available