K42* (p.Lys42Ter) variant of GNAT1 (P11488)
K42* (p.Lys42Ter) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K42* (p.Lys42Ter) variant details
- p.Lys42Ter
- gnomAD 3-50193150-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 41.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available