P178L (p.Pro178Leu) variant of ACE2 (Angiotensin-converting enzyme 2)
P178L (p.Pro178Leu) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P178L (p.Pro178Leu) variant details
- p.Pro178Leu
- ExAC rs779651019
- gnomAD rs779651019
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.35
- CADD 26.10
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available