E69Q (p.Glu69Gln) variant of SETD1B (Q9UPS6)
E69Q (p.Glu69Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E69Q (p.Glu69Gln) variant details
- p.Glu69Gln
- gnomAD rs1362571981
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.58
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available