E69D (p.Glu69Asp) variant of ANKRD1 (Q15327)
E69D (p.Glu69Asp) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E69D (p.Glu69Asp) variant details
- p.Glu69Asp
- TOPMed rs1847419797
- gnomAD rs1847419797
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.18
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available