H25Q (p.His25Gln) variant of GATA2 (P23769)
H25Q (p.His25Gln) 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; not provided; Deafness-lymphedema-leukemia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H25Q (p.His25Gln) variant details
- p.His25Gln
- rs1190021538
- ClinGen CA354409033
- ClinVar RCV001370440
- ClinVar RCV004774433
- Uncertain significance
- Inborn genetic diseases; not provided; Deafness-lymphedema-leukemia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.67
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Deafness-lymphedema-leuke)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)