H15Q (p.His15Gln) variant of GATA3 (P23771)
H15Q (p.His15Gln) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
H15Q (p.His15Gln) variant details
- p.His15Gln
- rs757149716
- ExAC rs757149716
- TOPMed rs757149716
- gnomAD rs757149716
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.65
- MetaLR 0.94
- MetaSVM 1.07
- CADD 25.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- 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)