A17S (p.Ala17Ser) variant of ACE2 (Angiotensin-converting enzyme 2)
A17S (p.Ala17Ser) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- TOPMed rs1238916402
- gnomAD rs1238916402
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.62
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available