E6K (p.Glu6Lys) variant of GATA2 (P23769)
E6K (p.Glu6Lys) 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 0.75 / 1. The record also includes structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs760132552
- ClinGen CA354409314
- ClinVar RCV000556049
- ExAC rs760132552
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.71
- MetaLR 0.80
- MetaSVM 0.77
- PolyPhen-2 0.36
- SIFT 0.01
- MutPred 0.39
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available