L17M (p.Leu17Met) variant of GATA2 (P23769)
L17M (p.Leu17Met) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L17M (p.Leu17Met) variant details
- p.Leu17Met
- rs752025757
- ClinGen CA354409156
- cosmic curated COSV99049
- ClinVar RCV001364936
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.64
- CADD 21.30
- PolyPhen-2 0.22
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)