Q13del (p.Gln13del) variant of SETD1B (Q9UPS6)
Q13del (p.Gln13del) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q13del (p.Gln13del) variant details
- rs879887994
- gnomAD 12-121804770-CCAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 19.80
- Population evidence available
- Structural context available
- Literature evidence available