M34T (p.Met34Thr) variant of GATA2 (P23769)
M34T (p.Met34Thr) 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 0.74 / 1. The record also includes structural context.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- rs1576749857
- ClinGen CA354408889
- ClinVar RCV000808230
- Ensembl rs1576749857
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.40
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.67
- SIFT 0.16
- EVE 0.43
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available