C373Y (p.Cys373Tyr) variant of GATA2 (P23769)
C373Y (p.Cys373Tyr) 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 0.99 / 1. The record also includes structural context.
C373Y (p.Cys373Tyr) variant details
- p.Cys373Tyr
- rs2107668617
- ClinGen CA354413502
- ClinVar RCV001542129
- Ensembl rs2107668617
- Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with susceptibility to M
- Missense
- Variant Prioritization Score for Impact Estimate 0.988
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Deafness-lymphedema-leukemia syndrome; GATA2 deficiency with sus)
- EBI: Likely pathogenic (in LMPM)
- UniProt: Likely pathogenic (in LMPM)
- Structural context available