E6G (p.Glu6Gly) variant of GATA2 (P23769)
E6G (p.Glu6Gly) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- Ensembl rs2068711666
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.48
- CADD 25.70
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available