R25K (p.Arg25Lys) variant of SETD1B (Q9UPS6)
R25K (p.Arg25Lys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R25K (p.Arg25Lys) variant details
- p.Arg25Lys
- cosmic curated COSV57352
- TOPMed rs954297627
- gnomAD rs954297627
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 22.90
- PolyPhen-2 0.17
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available