M388V (p.Met388Val) variant of GATA2 (P23769)
M388V (p.Met388Val) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.86 / 1. The record also includes population frequency data and structural context.
M388V (p.Met388Val) variant details
- p.Met388Val
- rs2107668104
- ClinGen CA354413352
- ClinVar RCV001542175
- ClinVar RCV003771663
- Conflicting interpretations
- GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.07
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (GATA2 deficiency with susceptibility to MDS/AML; Deafness-lymphe)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available