P22R (p.Pro22Arg) variant of GATA2 (P23769)
P22R (p.Pro22Arg) 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 0.80 / 1. The record also includes population frequency data and structural context.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- rs1430054108
- ClinGen CA354409083
- ClinVar RCV000548083
- gnomAD rs1430054108
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.87
- CADD 31.00
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available