Q60R (p.Gln60Arg) variant of ACE2 (Angiotensin-converting enzyme 2)
Q60R (p.Gln60Arg) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q60R (p.Gln60Arg) variant details
- p.Gln60Arg
- ExAC rs759162332
- gnomAD rs759162332
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.04
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.263