T354R (p.Thr354Arg) variant of GATA2 (P23769)
T354R (p.Thr354Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.91 / 1. The record also includes population frequency data and structural context.
T354R (p.Thr354Arg) variant details
- p.Thr354Arg
- rs387906631
- ClinGen CA354413617
- cosmic curated COSV62003
- ClinVar RCV001542227
- Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Pathogenic (in IMD21 and MDS)
- UniProt: Pathogenic (in IMD21 and MDS)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available