V184A (p.Val184Ala) variant of ACE2 (Angiotensin-converting enzyme 2)
V184A (p.Val184Ala) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V184A (p.Val184Ala) variant details
- p.Val184Ala
- ExAC rs758142853
- TOPMed rs758142853
- gnomAD rs758142853
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.51
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available