S32* (p.Ser32Ter) variant of DPYD (Q12882)
S32* (p.Ser32Ter) in DPYD (Q12882) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S32* (p.Ser32Ter) variant details
- p.Ser32Ter
- rs748974194
- ClinGen CA341380130
- ClinVar RCV003467854
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.96
- PolyPhen-2 0.00
- SIFT 0.23
- EVE 0.16
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)