L122V (p.Leu122Val) variant of DPYD (Q12882)
L122V (p.Leu122Val) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L122V (p.Leu122Val) variant details
- p.Leu122Val
- gnomAD rs1344975302
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.72
- MetaLR 0.65
- MetaSVM 0.37
- CADD 25.40
- PolyPhen-2 0.76
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available