E39K (p.Glu39Lys) variant of GNAT1 (P11488)
E39K (p.Glu39Lys) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E39K (p.Glu39Lys) variant details
- p.Glu39Lys
- gnomAD 3-50193141-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.72
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available