R50* (p.Arg50Ter) variant of SETD5 (Q9C0A6)
R50* (p.Arg50Ter) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R50* (p.Arg50Ter) variant details
- p.Arg50Ter
- rs891888542
- gnomAD 3-9429858-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 20.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available