E37K (p.Glu37Lys) variant of ACE2 (Angiotensin-converting enzyme 2)
E37K (p.Glu37Lys) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- rs146676783
- ESP rs146676783
- ExAC rs146676783
- TOPMed rs146676783
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.16
- CADD 23.00
- PolyPhen-2 0.52
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score 0.936