L148F (p.Leu148Phe) variant of ACE2 (Angiotensin-converting enzyme 2)
L148F (p.Leu148Phe) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L148F (p.Leu148Phe) variant details
- p.Leu148Phe
- cosmic curated COSV10725
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.34
- CADD 22.50
- PolyPhen-2 0.91
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available