H44I (p.His44Ile) variant of SETD1B (Q9UPS6)
H44I (p.His44Ile) in SETD1B (Q9UPS6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
H44I (p.His44Ile) variant details
- p.His44Ile
- gnomAD 12-121804866-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.489
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available