E60Q (p.Glu60Gln) variant of GNAT1 (P11488)
E60Q (p.Glu60Gln) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- TOPMed rs1242103172
- gnomAD rs1242103172
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.18
- CADD 23.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available