S3N (p.Ser3Asn) variant of ACE2 (Angiotensin-converting enzyme 2)
S3N (p.Ser3Asn) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- TOPMed rs1180242786
- gnomAD rs1180242786
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.02
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available