T65M (p.Thr65Met) variant of DPYD (Q12882)
T65M (p.Thr65Met) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T65M (p.Thr65Met) variant details
- p.Thr65Met
- rs371587702
- ClinGen CA963768
- cosmic curated COSV60084
- ClinVar RCV002693628
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.58
- MetaLR 0.69
- MetaSVM 0.43
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)