A72T (p.Ala72Thr) variant of DPYD (Q12882)
A72T (p.Ala72Thr) 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 0.78 / 1. The record also includes population frequency data and structural context.
A72T (p.Ala72Thr) variant details
- p.Ala72Thr
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10003
- Ensembl rs1571426976
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.74
- MetaLR 0.81
- MetaSVM 0.80
- CADD 26.60
- 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