R49R (p.Arg49Arg) variant of SETD1B (Q9UPS6)
R49R (p.Arg49Arg) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R49R (p.Arg49Arg) variant details
- p.Arg49Arg
- gnomAD 12-121804884-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 14.40
- Population evidence available
- Structural context available
- Literature evidence available