E64G (p.Glu64Gly) variant of GNAT1 (P11488)
E64G (p.Glu64Gly) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E64G (p.Glu64Gly) variant details
- p.Glu64Gly
- gnomAD 3-50193306-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 0.93
- SIFT 0.21
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available