L80V (p.Leu80Val) variant of DPYD (Q12882)
L80V (p.Leu80Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- gnomAD rs1392368213
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.71
- MetaLR 0.61
- MetaSVM 0.19
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available