A68E (p.Ala68Glu) variant of GATA2 (P23769)
A68E (p.Ala68Glu) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
A68E (p.Ala68Glu) variant details
- p.Ala68Glu
- cosmic curated COSV62005
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available