F48I (p.Phe48Ile) variant of GATA2 (P23769)
F48I (p.Phe48Ile) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
F48I (p.Phe48Ile) variant details
- p.Phe48Ile
- rs878855170
- ClinGen CA10582135
- ClinVar RCV000230807
- ClinVar RCV001812654
- Conflicting interpretations
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.82
- CADD 25.50
- PolyPhen-2 0.08
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)