A66V (p.Ala66Val) variant of GATA2 (P23769)
A66V (p.Ala66Val) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A66V (p.Ala66Val) variant details
- p.Ala66Val
- rs2068707325
- ClinGen CA354408328
- ClinVar RCV001297429
- Ensembl rs2068707325
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.76
- CADD 26.30
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available