R361L (p.Arg361Leu) variant of GATA2 (P23769)
R361L (p.Arg361Leu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R361L (p.Arg361Leu) variant details
- p.Arg361Leu
- rs387906634
- ClinGen CA128593
- ClinVar RCV000022573
- ClinVar RCV001542238
- Pathogenic
- GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphe)
- EBI: Pathogenic (in LMPM)
- UniProt: Pathogenic (in LMPM)
- Structural context available
- Cited in: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger… (PMID 21892158)