S5T (p.Ser5Thr) variant of ACE (Angiotensin-converting enzyme)
S5T (p.Ser5Thr) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 17-63477107-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0899
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.00
- CADD 3.68
- Population evidence available
- Structural context available
- Literature evidence available