T176P (p.Thr176Pro) variant of GATA2 (P23769)
T176P (p.Thr176Pro) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Monocytopenia with susceptibility to infections. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
T176P (p.Thr176Pro) variant details
- p.Thr176Pro
- rs1553770978
- ClinGen CA354406583
- ClinVar RCV000601326
- Ensembl rs1553770978
- Likely pathogenic
- Monocytopenia with susceptibility to infections
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.61
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Monocytopenia with susceptibility to infections)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available