E39E (p.Glu39Glu) variant of GNAT1 (P11488)
E39E (p.Glu39Glu) in GNAT1 (P11488) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
E39E (p.Glu39Glu) variant details
- p.Glu39Glu
- rs34797487
- gnomAD 3-50193143-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 9.61
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available