E89G (p.Glu89Gly) variant of ABCC9 (O60706)
E89G (p.Glu89Gly) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E89G (p.Glu89Gly) variant details
- p.Glu89Gly
- 1000Genomes rs199508243
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.92
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 0.00098)
- Structural context available