H9Y (p.His9Tyr) variant of SETD1B (Q9UPS6)
H9Y (p.His9Tyr) 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, published literature, and structural context.
H9Y (p.His9Tyr) variant details
- p.His9Tyr
- gnomAD 12-121804762-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.27
- ESM-1b 0.19
- AlphaMissense 0.16
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available