A15T (p.Ala15Thr) variant of GATA2 (P23769)
A15T (p.Ala15Thr) 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 0.64 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- rs1413920280
- ClinGen CA354409167
- ClinVar RCV002301827
- gnomAD rs1413920280
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.60
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.99
- CADD 23.40
- PolyPhen-2 0.63
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available