Y377D (p.Tyr377Asp) variant of GATA2 (P23769)
Y377D (p.Tyr377Asp) 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.
Y377D (p.Tyr377Asp) variant details
- p.Tyr377Asp
- rs2107668593
- ClinGen CA354413477
- ClinVar RCV001542165
- ClinVar RCV001821863
- Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available