H25Y (p.His25Tyr) variant of DPYD (Q12882)
H25Y (p.His25Tyr) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H25Y (p.His25Tyr) variant details
- p.His25Tyr
- rs775601164
- ClinGen CA27745029
- cosmic curated COSV60076
- ClinVar RCV003203365
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.30
- MetaLR 0.25
- MetaSVM -0.73
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)