H11Y (p.His11Tyr) variant of SETD1B (Q9UPS6)
H11Y (p.His11Tyr) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H11Y (p.His11Tyr) variant details
- p.His11Tyr
- gnomAD rs1400120120
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.28
- ESM-1b 0.01
- AlphaMissense 0.19
- CADD 23.20
- PolyPhen-2 0.30
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available