F40L (p.Phe40Leu) variant of ACE2 (Angiotensin-converting enzyme 2)
F40L (p.Phe40Leu) 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 0.09 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- TOPMed rs924799658
- gnomAD rs924799658
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0888
- REVEL 0.05
- CADD 0.92
- PolyPhen-2 0.01
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- ACE2 binding to SARS-CoV-2 spike protein, low affinity: score -0.695