Y50F (p.Tyr50Phe) variant of ACE2 (Angiotensin-converting enzyme 2)
Y50F (p.Tyr50Phe) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y50F (p.Tyr50Phe) variant details
- p.Tyr50Phe
- TOPMed rs1192192618
- gnomAD rs1192192618
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.84