R7L (p.Arg7Leu) variant of ACE (Angiotensin-converting enzyme)
R7L (p.Arg7Leu) in ACE (Angiotensin-converting enzyme) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- rs1451926480
- ClinGen CA400538241
- ClinVar RCV002672484
- TOPMed rs1451926480
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0962
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.05
- CADD 2.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)