A193E (p.Ala193Glu) variant of ACE2 (Angiotensin-converting enzyme 2)
A193E (p.Ala193Glu) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A193E (p.Ala193Glu) variant details
- p.Ala193Glu
- ExAC rs762219565
- TOPMed rs762219565
- gnomAD rs762219565
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.06
- CADD 15.70
- PolyPhen-2 0.15
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available