R69H (p.Arg69His) variant of GATA2 (P23769)
R69H (p.Arg69His) 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 0.69 / 1. The record also includes structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- rs1457679310
- ClinGen CA354408281
- ClinVar RCV000805266
- TOPMed rs1457679310
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 0.38
- MetaLR 0.92
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.19
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available