L135F (p.Leu135Phe) variant of DPYD (Q12882)
L135F (p.Leu135Phe) 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 0.59 / 1. The record also includes population frequency data and structural context.
L135F (p.Leu135Phe) variant details
- p.Leu135Phe
- rs1411615618
- NCI-TCGA Cosmic COSV6007
- cosmic curated COSV60079
- gnomAD rs1411615618
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.55
- MetaLR 0.55
- MetaSVM -0.10
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available