E14E (p.Glu14Glu) variant of GNAT1 (P11488)
E14E (p.Glu14Glu) in GNAT1 (P11488) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- rs748389570
- gnomAD 3-50191767-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 9.69
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available