T27A (p.Thr27Ala) variant of ACE2 (Angiotensin-converting enzyme 2)
T27A (p.Thr27Ala) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T27A (p.Thr27Ala) variant details
- p.Thr27Ala
- ExAC rs781255386
- TOPMed rs781255386
- gnomAD rs781255386
- Missense
- Variant Prioritization Score for Impact Estimate 0.0526
- REVEL 0.02
- CADD 3.03
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -1.93