K50E (p.Lys50Glu) variant of GNAT1 (P11488)
K50E (p.Lys50Glu) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- gnomAD 3-50193174-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.82
- CADD 33.00
- PolyPhen-2 0.64
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available