S32L (p.Ser32Leu) variant of DPYD (Q12882)
S32L (p.Ser32Leu) 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.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- rs748974194
- NCI-TCGA Cosmic COSV6007
- cosmic curated COSV60077
- ExAC rs748974194
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.07
- AlphaMissense 0.06
- MetaLR 0.16
- MetaSVM -0.96
- CADD 19.20
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available