V45A (p.Val45Ala) variant of GATA2 (P23769)
V45A (p.Val45Ala) 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 0.79 / 1. The record also includes published literature and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- rs2107673537
- ClinGen CA354408724
- ClinVar RCV002037461
- ClinVar RCV005841846
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.83
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.91
- SIFT 0.00
- EVE 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- 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)