G68E (p.Gly68Glu) variant of ABCC9 (O60706)
G68E (p.Gly68Glu) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G68E (p.Gly68Glu) variant details
- p.Gly68Glu
- ExAC rs760934600
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available