R24K (p.Arg24Lys) variant of SETD1B (Q9UPS6)
R24K (p.Arg24Lys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- TOPMed rs1875642469
- gnomAD rs1875642469
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 19.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available