Q55P (p.Gln55Pro) variant of GATA2 (P23769)
Q55P (p.Gln55Pro) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Q55P (p.Gln55Pro) variant details
- p.Gln55Pro
- rs2107673491
- ClinGen CA354408529
- ClinVar RCV002045126
- Ensembl rs2107673491
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.91
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available