R25R (p.Arg25Arg) variant of SETD1B (Q9UPS6)
R25R (p.Arg25Arg) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R25R (p.Arg25Arg) variant details
- p.Arg25Arg
- rs1875643022
- gnomAD 12-121804812-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available