P7del (p.Pro7del) variant of SETD1B (Q9UPS6)
P7del (p.Pro7del) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P7del (p.Pro7del) variant details
- rs777278685
- gnomAD 12-121804751-ACCC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 18.10
- Most common in the Latino/Admixed American population (allele frequency 0.00071)
- Structural context available
- Literature evidence available