P22T (p.Pro22Thr) variant of GATA2 (P23769)
P22T (p.Pro22Thr) 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 0.74 / 1. The record also includes population frequency data and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- rs1172590651
- ClinGen CA354409091
- ClinVar RCV000984845
- ClinVar RCV002549630
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.76
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available