R396W (p.Arg396Trp) variant of GATA2 (P23769)
R396W (p.Arg396Trp) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphede. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R396W (p.Arg396Trp) variant details
- p.Arg396Trp
- rs1576744529
- ClinGen CA354413236
- NCI-TCGA Cosmic COSV1003
- NCI-TCGA Cosmic COSV6200
- Pathogenic/Likely pathogenic
- not provided; GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphede
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; GATA2 deficiency with susceptibility to MDS/AML; D)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)