E8Q (p.Glu8Gln) variant of GNAT1 (P11488)
E8Q (p.Glu8Gln) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- gnomAD rs1384503071
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.58
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.13
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available