A99T (p.Ala99Thr) variant of ACE2 (Angiotensin-converting enzyme 2)
A99T (p.Ala99Thr) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A99T (p.Ala99Thr) variant details
- p.Ala99Thr
- TOPMed rs1927923743
- gnomAD rs1927923743
- Missense
- Variant Prioritization Score for Impact Estimate 0.0655
- REVEL 0.06
- CADD 1.05
- PolyPhen-2 0.05
- SIFT 0.53
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available