D46A (p.Asp46Ala) variant of DPYD (Q12882)
D46A (p.Asp46Ala) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D46A (p.Asp46Ala) variant details
- p.Asp46Ala
- rs756684474
- ClinGen CA27744966
- ClinVar RCV002722932
- ExAC rs756684474
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.39
- MetaLR 0.31
- MetaSVM -0.51
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)