V30* (p.Val30Ter) variant of GNAT1 (P11488)
V30* (p.Val30Ter) 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.
V30* (p.Val30Ter) variant details
- p.Val30Ter
- gnomAD 3-50191810-AC-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 25.40
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available