K34N (p.Lys34Asn) variant of DPYD (Q12882)
K34N (p.Lys34Asn) 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 0.41 / 1. The record also includes population frequency data and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- NCI-TCGA Cosmic COSV6008
- cosmic curated COSV60084
- 1000Genomes rs2101642635
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.35
- MetaLR 0.40
- MetaSVM -0.27
- CADD 23.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available