T55A (p.Thr55Ala) variant of ACE2 (Angiotensin-converting enzyme 2)
T55A (p.Thr55Ala) in ACE2 (Angiotensin-converting enzyme 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- ExAC rs775273812
- gnomAD rs775273812
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.26
- CADD 24.30
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available