p.Pro7dup variant of SETD1B (Q9UPS6)
p.Pro7dup in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
p.Pro7dup variant details
- gnomAD 12-121804751-A-AC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.427
- CADD 21.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available