I104M (p.Ile104Met) variant of DPYD (Q12882)
I104M (p.Ile104Met) in DPYD (Q12882) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I104M (p.Ile104Met) variant details
- p.Ile104Met
- rs749699298
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10003
- ExAC rs749699298
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.72
- MetaLR 0.53
- MetaSVM -0.02
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available