A3T (p.Ala3Thr) variant of ACE (Angiotensin-converting enzyme)
A3T (p.Ala3Thr) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 17-63477101-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.07
- MetaSVM -0.96
- CADD 13.50
- Population evidence available
- Structural context available
- Literature evidence available