A66T (p.Ala66Thr) variant of GATA2 (P23769)
A66T (p.Ala66Thr) in GATA2 (P23769) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- TOPMed rs2068707355
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.62
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available