K50R (p.Lys50Arg) variant of GNAT1 (P11488)
K50R (p.Lys50Arg) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- gnomAD 3-50193175-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.42
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available