I12M (p.Ile12Met) variant of DPYD (Q12882)
I12M (p.Ile12Met) in DPYD (Q12882) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
I12M (p.Ile12Met) variant details
- p.Ile12Met
- rs376273539
- ClinGen CA963852
- cosmic curated COSV10003
- ClinVar RCV002271942
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.57
- MetaLR 0.52
- MetaSVM -0.39
- CADD 24.70
- PolyPhen-2 0.53
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available