H54Y (p.His54Tyr) variant of SETD1B (Q9UPS6)
H54Y (p.His54Tyr) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H54Y (p.His54Tyr) variant details
- p.His54Tyr
- gnomAD rs1362433895
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.33
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 3.4e-05)
- Structural context available