S43N (p.Ser43Asn) variant of ACE2 (Angiotensin-converting enzyme 2)
S43N (p.Ser43Asn) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S43N (p.Ser43Asn) variant details
- p.Ser43Asn
- TOPMed rs1928152672
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- CADD 3.92
- PolyPhen-2 0.02
- SIFT 0.30
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available