M34L (p.Met34Leu) variant of GATA2 (P23769)
M34L (p.Met34Leu) 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; not provided; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
M34L (p.Met34Leu) variant details
- p.Met34Leu
- rs762794939
- ClinGen CA2600102
- ClinVar RCV001224015
- ClinVar RCV004778012
- Uncertain significance
- Inborn genetic diseases; not provided; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.71
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)