R43G (p.Arg43Gly) variant of DPYD (Q12882)
R43G (p.Arg43Gly) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- ExAC rs780873985
- gnomAD rs780873985
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.72
- MetaLR 0.69
- MetaSVM 0.52
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available