L40G (p.Leu40Gly) variant of ABCC2 (Q92887)
L40G (p.Leu40Gly) in ABCC2 (Q92887) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L40G (p.Leu40Gly) variant details
- p.Leu40Gly
- gnomAD 10-99784690-A-ATG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 28.10
- Population evidence available
- Structural context available
- Literature evidence available