A105V (p.Ala105Val) variant of DPYD (Q12882)
A105V (p.Ala105Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A105V (p.Ala105Val) variant details
- p.Ala105Val
- TOPMed rs1664195715
- gnomAD rs1664195715
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.42
- MetaLR 0.34
- MetaSVM -0.31
- CADD 27.70
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available