A318T (p.Ala318Thr) variant of GATA2 (P23769)
A318T (p.Ala318Thr) 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 0.96 / 1. The record also includes structural context.
A318T (p.Ala318Thr) variant details
- p.Ala318Thr
- rs2107670401
- ClinGen CA354404520
- NCI-TCGA Cosmic COSV6200
- cosmic curated COSV62003
- Pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available