S9L (p.Ser9Leu) variant of DPYD (Q12882)
S9L (p.Ser9Leu) 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 0.31 / 1. The record also includes population frequency data and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- NCI-TCGA Cosmic COSV6008
- cosmic curated COSV60082
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.13
- MetaLR 0.10
- MetaSVM -0.98
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available