Q25L (p.Gln25Leu) variant of ACE (Angiotensin-converting enzyme)
Q25L (p.Gln25Leu) 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; Microvascular complications of diabetes, susceptibility. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
Q25L (p.Gln25Leu) variant details
- p.Gln25Leu
- rs968327653
- ClinGen CA292870308
- ClinVar RCV002759041
- ClinVar RCV005021773
- Uncertain significance
- Inborn genetic diseases; Microvascular complications of diabetes, susceptibility
- Missense
- Variant Prioritization Score for Impact Estimate 0.0895
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.02
- CADD 5.32
- ClinVar: Uncertain significance (Inborn genetic diseases; Microvascular complications of diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- 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)