Q12P (p.Gln12Pro) variant of SETD1B (Q9UPS6)
Q12P (p.Gln12Pro) in SETD1B (Q9UPS6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Q12P (p.Gln12Pro) variant details
- p.Gln12Pro
- gnomAD 12-121804771-CAG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 28.30
- Population evidence available
- Structural context available
- Literature evidence available