A3D (p.Ala3Asp) variant of GNAT1 (P11488)
A3D (p.Ala3Asp) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A3D (p.Ala3Asp) variant details
- p.Ala3Asp
- gnomAD 3-50191733-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.56
- CADD 23.40
- PolyPhen-2 0.30
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available