G46* (p.Gly46Ter) variant of SETD5 (Q9C0A6)
G46* (p.Gly46Ter) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G46* (p.Gly46Ter) variant details
- p.Gly46Ter
- gnomAD 3-9429876-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 20.90
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available