V3M (p.Val3Met) variant of GATA2 (P23769)
V3M (p.Val3Met) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.71 / 1. The record also includes population frequency data and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- rs2107673805
- ClinGen CA354409346
- ClinVar RCV002050478
- Ensembl rs2107673805
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.83
- SIFT 0.06
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available