E64K (p.Glu64Lys) variant of GNAT1 (P11488)
E64K (p.Glu64Lys) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E64K (p.Glu64Lys) variant details
- p.Glu64Lys
- gnomAD 3-50193305-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.78
- CADD 25.60
- PolyPhen-2 0.86
- SIFT 0.21
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available