H8D (p.His8Asp) variant of SETD1B (Q9UPS6)
H8D (p.His8Asp) in SETD1B (Q9UPS6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H8D (p.His8Asp) variant details
- p.His8Asp
- ExAC rs770426488
- TOPMed rs770426488
- gnomAD rs770426488
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.32
- ESM-1b 0.88
- AlphaMissense 0.31
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available