Y83H (p.Tyr83His) variant of ACE2 (Angiotensin-converting enzyme 2)
Y83H (p.Tyr83His) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y83H (p.Tyr83His) variant details
- p.Tyr83His
- Ensembl rs1927925071
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.25
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.186