S5L (p.Ser5Leu) variant of ACE (Angiotensin-converting enzyme)
S5L (p.Ser5Leu) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S5L (p.Ser5Leu) variant details
- p.Ser5Leu
- TOPMed rs1296229818
- gnomAD rs1296229818
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.05
- MetaSVM -1.02
- CADD 7.66
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available