H65Y (p.His65Tyr) variant of GATA2 (P23769)
H65Y (p.His65Tyr) 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; Monocytopenia with susceptibility to infections; Deafne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
H65Y (p.His65Tyr) variant details
- p.His65Tyr
- rs2107673433
- ClinGen CA354408356
- ClinVar RCV001898355
- ClinVar RCV005572689
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.16
- MetaLR 0.90
- MetaSVM 0.95
- PolyPhen-2 0.14
- SIFT 0.02
- MutPred 0.38
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)