E2Q (p.Glu2Gln) variant of SETD1B (Q9UPS6)
E2Q (p.Glu2Gln) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- gnomAD 12-121804741-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.42
- CADD 28.20
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available