P36A (p.Pro36Ala) variant of GATA2 (P23769)
P36A (p.Pro36Ala) 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 0.75 / 1. The record also includes population frequency data and structural context.
P36A (p.Pro36Ala) variant details
- p.Pro36Ala
- rs1348109698
- ClinGen CA354408860
- ClinVar RCV001221270
- TOPMed rs1348109698
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.77
- CADD 24.50
- PolyPhen-2 0.08
- SIFT 0.04
- 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 1.5e-05)
- Structural context available