L30S (p.Leu30Ser) variant of ACE (Angiotensin-converting enzyme)
L30S (p.Leu30Ser) in ACE (Angiotensin-converting enzyme) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L30S (p.Leu30Ser) variant details
- p.Leu30Ser
- TOPMed rs1196105733
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.37
- MetaLR 0.06
- MetaSVM -1.03
- CADD 18.60
- Population evidence available
- Structural context available