T92I (p.Thr92Ile) variant of ACE2 (Angiotensin-converting enzyme 2)
T92I (p.Thr92Ile) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T92I (p.Thr92Ile) variant details
- p.Thr92Ile
- ExAC rs763395248
- gnomAD rs763395248
- Missense
- Variant Prioritization Score for Impact Estimate 0.0437
- REVEL 0.03
- CADD 0.45
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -2.08