L73R (p.Leu73Arg) variant of DPYD (Q12882)
L73R (p.Leu73Arg) in DPYD (Q12882) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L73R (p.Leu73Arg) variant details
- p.Leu73Arg
- rs762102298
- ClinGen CA963765
- ClinVar RCV002425548
- ExAC rs762102298
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.74
- MetaLR 0.62
- MetaSVM 0.31
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)