D86E (p.Asp86Glu) variant of ANKRD1 (Q15327)
D86E (p.Asp86Glu) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D86E (p.Asp86Glu) variant details
- p.Asp86Glu
- TOPMed rs1445123382
- gnomAD rs1445123382
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.32
- CADD 23.70
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available