Q13P (p.Gln13Pro) variant of SETD1B (Q9UPS6)
Q13P (p.Gln13Pro) in SETD1B (Q9UPS6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q13P (p.Gln13Pro) variant details
- p.Gln13Pro
- gnomAD 12-121804774-CAG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.667
- CADD 27.60
- Population evidence available
- Structural context available
- Literature evidence available