H5H (p.His5His) variant of SETD1B (Q9UPS6)
H5H (p.His5His) in SETD1B (Q9UPS6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H5H (p.His5His) variant details
- p.His5His
- rs903593177
- gnomAD 12-121804752-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.538
- CADD 12.60
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available
- Literature evidence available