P20R (p.Pro20Arg) variant of DPYD (Q12882)
P20R (p.Pro20Arg) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P20R (p.Pro20Arg) variant details
- p.Pro20Arg
- ExAC rs753217888
- gnomAD rs753217888
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.69
- MetaLR 0.73
- MetaSVM 0.58
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available