W360L (p.Trp360Leu) variant of GATA2 (P23769)
W360L (p.Trp360Leu) 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 0.97 / 1. The record also includes structural context.
W360L (p.Trp360Leu) variant details
- p.Trp360Leu
- rs2107668679
- ClinGen CA354413585
- cosmic curated COSV62002
- ClinVar RCV001542235
- Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.94
- PolyPhen-2 1.00
- 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