T354P (p.Thr354Pro) variant of GATA2 (P23769)
T354P (p.Thr354Pro) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
T354P (p.Thr354Pro) variant details
- p.Thr354Pro
- rs2107668727
- ClinGen CA354413620
- ClinVar RCV001542225
- Ensembl rs2107668727
- Pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Pathogenic (in IMD21 and MDS)
- UniProt: Pathogenic (in IMD21 and MDS)
- Structural context available