H8T (p.His8Thr) variant of SETD1B (Q9UPS6)
H8T (p.His8Thr) in SETD1B (Q9UPS6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H8T (p.His8Thr) variant details
- p.His8Thr
- rs777278685
- gnomAD 12-121804751-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 24.70
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available
- Literature evidence available