F49L (p.Phe49Leu) variant of GATA2 (P23769)
F49L (p.Phe49Leu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
F49L (p.Phe49Leu) variant details
- p.Phe49Leu
- rs1474218678
- ClinGen CA354408648
- ClinVar RCV001059515
- ClinVar RCV005572448
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 0.78
- MetaLR 0.79
- MetaSVM 0.45
- PolyPhen-2 0.05
- SIFT 0.08
- EVE 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Likely benign
- UniProt: Likely benign
- 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)