S5P (p.Ser5Pro) variant of ACE (Angiotensin-converting enzyme)
S5P (p.Ser5Pro) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 17-63477107-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.06
- MetaSVM -1.02
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available