M34R (p.Met34Arg) variant of GATA2 (P23769)
M34R (p.Met34Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
M34R (p.Met34Arg) variant details
- p.Met34Arg
- rs1576749857
- ClinGen CA354408886
- ClinVar RCV001147498
- ClinVar RCV005562574
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.91
- AlphaMissense 0.40
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.60
- PolyPhen-2 0.67
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)