P58H (p.Pro58His) variant of GATA2 (P23769)
P58H (p.Pro58His) 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 0.67 / 1. The record also includes structural context.
P58H (p.Pro58His) variant details
- p.Pro58His
- rs2107673477
- ClinGen CA354408477
- ClinVar RCV001931352
- Ensembl rs2107673477
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.47
- MetaLR 0.93
- MetaSVM 0.99
- PolyPhen-2 0.41
- SIFT 0.04
- EVE 0.14
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available