V3A (p.Val3Ala) variant of GATA2 (P23769)
V3A (p.Val3Ala) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- rs1220018679
- ClinGen CA354409342
- ClinVar RCV001036387
- ClinVar RCV004973248
- Conflicting interpretations
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.68
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.33
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)