A68V (p.Ala68Val) variant of GATA2 (P23769)
A68V (p.Ala68Val) in GATA2 (P23769) is a missense change. Clinical records from ClinVar 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 0.72 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- cosmic curated COSV62005
- Uncertain significance
- Monocytopenia with susceptibility to infections; Deafness-lymphedema-leukemia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.70
- CADD 24.50
- PolyPhen-2 0.32
- SIFT 0.21
- ClinVar: Uncertain significance (Monocytopenia with susceptibility to infections; Deafness-lymphe)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available