E85D (p.Glu85Asp) variant of ANKRD1 (Q15327)
E85D (p.Glu85Asp) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E85D (p.Glu85Asp) variant details
- p.Glu85Asp
- TOPMed rs1453316775
- gnomAD rs1453316775
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.11
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available