R361H (p.Arg361His) variant of GATA2 (P23769)
R361H (p.Arg361His) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R361H (p.Arg361His) variant details
- p.Arg361His
- rs387906634
- ClinGen CA354413576
- cosmic curated COSV62003
- ClinVar RCV001542116
- Conflicting interpretations
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Conflicting classifications of pathogenicity (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Pathogenic (in LMPM)
- UniProt: Pathogenic (in LMPM)
- 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)