Q48* (p.Gln48Ter) variant of GNAT1 (P11488)
Q48* (p.Gln48Ter) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q48* (p.Gln48Ter) variant details
- p.Gln48Ter
- gnomAD 3-50193168-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 37.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available