E16G (p.Glu16Gly) variant of GNAT1 (P11488)
E16G (p.Glu16Gly) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- ExAC rs770031393
- gnomAD rs770031393
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available