R396Q (p.Arg396Gln) variant of GATA2 (P23769)
R396Q (p.Arg396Gln) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.94 / 1. The record also includes structural context.
R396Q (p.Arg396Gln) variant details
- p.Arg396Gln
- rs1553770434
- ClinGen CA354413234
- NCI-TCGA Cosmic COSV6200
- cosmic curated COSV62004
- Pathogenic
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available