M388T (p.Met388Thr) variant of GATA2 (P23769)
M388T (p.Met388Thr) 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 0.94 / 1. The record also includes structural context.
M388T (p.Met388Thr) variant details
- p.Met388Thr
- rs2107668103
- ClinGen CA354413345
- cosmic curated COSV62007
- ClinVar RCV001541949
- Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available