E61D (p.Glu61Asp) variant of GNAT1 (P11488)
E61D (p.Glu61Asp) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- gnomAD 3-50193298-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.24
- CADD 23.00
- PolyPhen-2 0.57
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available