S19P (p.Ser19Pro) variant of ACE2 (Angiotensin-converting enzyme 2)
S19P (p.Ser19Pro) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- 1000Genomes rs73635825
- ESP rs73635825
- ExAC rs73635825
- TOPMed rs73635825
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.17
- CADD 14.20
- PolyPhen-2 0.74
- SIFT 0.19
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.226