R21Q (p.Arg21Gln) variant of DPYD (Q12882)
R21Q (p.Arg21Gln) 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 0.50 / 1. The record also includes population frequency data and structural context.
R21Q (p.Arg21Gln) variant details
- p.Arg21Gln
- rs80081766
- cosmic curated COSV60077
- ESP rs80081766
- ExAC rs80081766
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.44
- MetaLR 0.52
- MetaSVM 0.14
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available