Y60C (p.Tyr60Cys) variant of GATA2 (P23769)
Y60C (p.Tyr60Cys) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
Y60C (p.Tyr60Cys) variant details
- p.Tyr60Cys
- rs750003894
- ClinGen CA354408436
- ClinVar RCV001243944
- ExAC rs750003894
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.22
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available