E16Q (p.Glu16Gln) variant of GNAT1 (P11488)
E16Q (p.Glu16Gln) 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, published literature, and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- gnomAD 3-50191771-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.79
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available