A72P (p.Ala72Pro) variant of DPYD (Q12882)
A72P (p.Ala72Pro) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A72P (p.Ala72Pro) variant details
- p.Ala72Pro
- Ensembl rs1571426976
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.84
- MetaLR 0.84
- MetaSVM 0.90
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available