Y199C (p.Tyr199Cys) variant of ACE2 (Angiotensin-converting enzyme 2)
Y199C (p.Tyr199Cys) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y199C (p.Tyr199Cys) variant details
- p.Tyr199Cys
- ExAC rs750145841
- TOPMed rs750145841
- gnomAD rs750145841
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.38
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available