A12E (p.Ala12Glu) variant of GATA2 (P23769)
A12E (p.Ala12Glu) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A12E (p.Ala12Glu) variant details
- p.Ala12Glu
- rs1263269900
- ClinGen CA354409208
- ClinVar RCV003238718
- TOPMed rs1263269900
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.54
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available