D96V (p.Asp96Val) variant of DPYD (Q12882)
D96V (p.Asp96Val) 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 0.73 / 1. The record also includes population frequency data and structural context.
D96V (p.Asp96Val) variant details
- p.Asp96Val
- rs771573678
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10003
- ExAC rs771573678
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.84
- MetaLR 0.73
- MetaSVM 0.64
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available