K37* (p.Lys37Ter) variant of SETD5 (Q9C0A6)
K37* (p.Lys37Ter) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K37* (p.Lys37Ter) variant details
- p.Lys37Ter
- gnomAD 3-9429883-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available