H8Q (p.His8Gln) variant of SETD1B (Q9UPS6)
H8Q (p.His8Gln) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SETD1B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H8Q (p.His8Gln) variant details
- p.His8Gln
- rs901546350
- TOPMed rs901546350
- gnomAD rs901546350
- ClinGen CA386986796
- Uncertain significance
- SETD1B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 20.70
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (SETD1B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available