Y196C (p.Tyr196Cys) variant of ACE2 (Angiotensin-converting enzyme 2)
Y196C (p.Tyr196Cys) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Y196C (p.Tyr196Cys) variant details
- p.Tyr196Cys
- TOPMed rs1927730554
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available