A13S (p.Ala13Ser) variant of ACE2 (Angiotensin-converting enzyme 2)
A13S (p.Ala13Ser) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- TOPMed rs1482922566
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.13
- CADD 19.50
- PolyPhen-2 0.58
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available