L8F (p.Leu8Phe) variant of ACE2 (Angiotensin-converting enzyme 2)
L8F (p.Leu8Phe) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- ExAC rs201035388
- TOPMed rs201035388
- gnomAD rs201035388
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.03
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available