K47N (p.Lys47Asn) variant of DPYD (Q12882)
K47N (p.Lys47Asn) in DPYD (Q12882) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of DPYD-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- ExAC rs746681994
- gnomAD rs746681994
- Uncertain significance
- DPYD-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.42
- MetaLR 0.35
- MetaSVM -0.48
- CADD 23.70
- PolyPhen-2 0.34
- SIFT 0.03
- ClinVar: Uncertain significance (DPYD-related disorder)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available