E35D (p.Glu35Asp) variant of GATA2 (P23769)
E35D (p.Glu35Asp) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- rs2107673579
- ClinGen CA354408863
- ClinVar RCV001878855
- Ensembl rs2107673579
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.19
- MetaLR 0.86
- MetaSVM 0.54
- PolyPhen-2 0.01
- SIFT 0.63
- EVE 0.16
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available