E86K (p.Glu86Lys) variant of ABCC9 (O60706)
E86K (p.Glu86Lys) in ABCC9 (O60706) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E86K (p.Glu86Lys) variant details
- p.Glu86Lys
- ExAC rs774026262
- gnomAD rs774026262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.79
- CADD 24.70
- PolyPhen-2 0.65
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available