H9Q (p.His9Gln) variant of SETD1B (Q9UPS6)
H9Q (p.His9Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H9Q (p.His9Gln) variant details
- p.His9Gln
- gnomAD 12-121804764-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the East Asian population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available