H40R (p.His40Arg) variant of DPYD (Q12882)
H40R (p.His40Arg) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H40R (p.His40Arg) variant details
- p.His40Arg
- TOPMed rs965757542
- gnomAD rs965757542
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.33
- MetaLR 0.35
- MetaSVM -0.46
- CADD 23.10
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available