E69E (p.Glu69Glu) variant of SETD1B (Q9UPS6)
E69E (p.Glu69Glu) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E69E (p.Glu69Glu) variant details
- p.Glu69Glu
- gnomAD 12-121805150-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 12.80
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available