H45Q (p.His45Gln) variant of SETD1B (Q9UPS6)
H45Q (p.His45Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H45Q (p.His45Gln) variant details
- p.His45Gln
- gnomAD rs1448838425
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.95
- CADD 15.70
- PolyPhen-2 0.29
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available