R7S (p.Arg7Ser) variant of ACE (Angiotensin-converting enzyme)
R7S (p.Arg7Ser) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R7S (p.Arg7Ser) variant details
- p.Arg7Ser
- TOPMed rs1285068027
- gnomAD rs1285068027
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.05
- MetaSVM -1.00
- CADD 9.95
- Population evidence available
- Structural context available