A17T (p.Ala17Thr) variant of DPYD (Q12882)
A17T (p.Ala17Thr) 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 0.43 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- NCI-TCGA Cosmic COSV6008
- cosmic curated COSV60080
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.33
- MetaLR 0.38
- MetaSVM -0.30
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available