p.His11dup variant of SETD1B (Q9UPS6)
p.His11dup in SETD1B (Q9UPS6) is a missense 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.
p.His11dup variant details
- rs756897560
- gnomAD 12-121804757-C-CC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 18.90
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- Literature evidence available