E23K (p.Glu23Lys) variant of ACE2 (Angiotensin-converting enzyme 2)
E23K (p.Glu23Lys) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- ExAC rs756231991
- TOPMed rs756231991
- gnomAD rs756231991
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.15
- CADD 8.81
- PolyPhen-2 0.16
- SIFT 0.32
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.673