T358N (p.Thr358Asn) variant of GATA2 (P23769)
T358N (p.Thr358Asn) 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 0.99 / 1. The record also includes structural context.
T358N (p.Thr358Asn) variant details
- p.Thr358Asn
- rs148942346
- ClinGen CA354413596
- cosmic curated COSV62003
- ClinVar RCV001541947
- Pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available