R398Q (p.Arg398Gln) variant of GATA2 (P23769)
R398Q (p.Arg398Gln) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.91 / 1. The record also includes population frequency data and structural context.
R398Q (p.Arg398Gln) variant details
- p.Arg398Gln
- rs1420609104
- ClinGen CA354413213
- NCI-TCGA Cosmic COSV6200
- cosmic curated COSV62005
- Pathogenic/Likely pathogenic
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.95
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Pathogenic (in IMD21)
- UniProt: Pathogenic (in IMD21)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available