E35K (p.Glu35Lys) variant of ACE2 (Angiotensin-converting enzyme 2)
E35K (p.Glu35Lys) 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 0.05 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs1348114695
- cosmic curated COSV10877
- TOPMed rs1348114695
- gnomAD rs1348114695
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0473
- REVEL 0.02
- CADD 1.49
- PolyPhen-2 0.01
- SIFT 0.72
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.776