P42Q (p.Pro42Gln) variant of GATA2 (P23769)
P42Q (p.Pro42Gln) in GATA2 (P23769) is a missense change. Clinical records from ClinVar 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 0.59 / 1. The record also includes population frequency data and structural context.
P42Q (p.Pro42Gln) variant details
- p.Pro42Gln
- ExAC rs745999608
- gnomAD rs745999608
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.50
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.10
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available