W46L (p.Trp46Leu) variant of ABCC2 (Q92887)
W46L (p.Trp46Leu) in ABCC2 (Q92887) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
W46L (p.Trp46Leu) variant details
- p.Trp46Leu
- gnomAD 10-99784704-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available