H11Q (p.His11Gln) variant of SETD1B (Q9UPS6)
H11Q (p.His11Gln) in SETD1B (Q9UPS6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H11Q (p.His11Gln) variant details
- p.His11Gln
- rs571737223
- 1000Genomes rs571737223
- ExAC rs571737223
- TOPMed rs571737223
- Benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 23.00
- PolyPhen-2 0.30
- SIFT 0.03
- ClinVar: Benign (Inborn genetic diseases)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:JAPANESE population (allele frequency 0.019)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)