L122I (p.Leu122Ile) variant of DPYD (Q12882)
L122I (p.Leu122Ile) in DPYD (Q12882) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L122I (p.Leu122Ile) variant details
- p.Leu122Ile
- gnomAD rs1344975302
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.67
- MetaLR 0.60
- MetaSVM 0.25
- CADD 25.70
- PolyPhen-2 0.69
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available