R24R (p.Arg24Arg) variant of SETD1B (Q9UPS6)
R24R (p.Arg24Arg) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R24R (p.Arg24Arg) variant details
- p.Arg24Arg
- rs1875642673
- gnomAD 12-121804809-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 14.10
- Most common in the South Asian population (allele frequency 6.3e-05)
- Structural context available
- Literature evidence available