H11del (p.His11del) variant of SETD1B (Q9UPS6)
H11del (p.His11del) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H11del (p.His11del) variant details
- rs756897560
- gnomAD 12-121804757-CCCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 19.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available