C141Y (p.Cys141Tyr) variant of ACE2 (Angiotensin-converting enzyme 2)
C141Y (p.Cys141Tyr) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C141Y (p.Cys141Tyr) variant details
- p.Cys141Tyr
- TOPMed rs1391451327
- gnomAD rs1391451327
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available