E60A (p.Glu60Ala) variant of MECOM (Q03112)
E60A (p.Glu60Ala) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
E60A (p.Glu60Ala) variant details
- p.Glu60Ala
- ESP rs369826375
- ExAC rs369826375
- TOPMed rs369826375
- gnomAD rs369826375
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 23.70
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)