P22A (p.Pro22Ala) variant of GATA2 (P23769)
P22A (p.Pro22Ala) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- rs1172590651
- ClinGen CA354409089
- ClinVar RCV001326780
- ClinVar RCV005340792
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.69
- CADD 23.90
- PolyPhen-2 0.23
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)