R72R (p.Arg72Arg) variant of SETD1B (Q9UPS6)
R72R (p.Arg72Arg) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R72R (p.Arg72Arg) variant details
- p.Arg72Arg
- gnomAD 12-121805157-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available