K50K (p.Lys50Lys) variant of GNAT1 (P11488)
K50K (p.Lys50Lys) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K50K (p.Lys50Lys) variant details
- p.Lys50Lys
- gnomAD 3-50193265-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 16.40
- Population evidence available
- Structural context available
- Literature evidence available