I62N (p.Ile62Asn) variant of DPYD (Q12882)
I62N (p.Ile62Asn) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
I62N (p.Ile62Asn) variant details
- p.Ile62Asn
- rs2525245478
- ClinGen CA341379465
- ClinVar RCV002767712
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.85
- MetaLR 0.50
- MetaSVM 0.17
- CADD 24.50
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)