P92A (p.Pro92Ala) variant of DPYD (Q12882)
P92A (p.Pro92Ala) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dihydropyrimidine dehydrogenase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P92A (p.Pro92Ala) variant details
- p.Pro92Ala
- rs143986398
- ClinGen CA963742
- cosmic curated COSV60079
- ClinVar RCV000991926
- Uncertain significance
- Dihydropyrimidine dehydrogenase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Dihydropyrimidine dehydrogenase deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and… (PMID 29152729)