p.Pro6 His8del variant of SETD1B (Q9UPS6)
p.Pro6 His8del 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.
p.Pro6 His8del variant details
- rs2137541518
- gnomAD 12-121804749-TCAC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.444
- CADD 20.60
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available