R74Q (p.Arg74Gln) variant of DPYD (Q12882)
R74Q (p.Arg74Gln) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R74Q (p.Arg74Gln) variant details
- p.Arg74Gln
- cosmic curated COSV60074
- TOPMed rs1669331541
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.38
- MetaLR 0.18
- MetaSVM -0.85
- CADD 24.30
- PolyPhen-2 0.38
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available