A80P (p.Ala80Pro) variant of ABCC2 (Q92887)
A80P (p.Ala80Pro) in ABCC2 (Q92887) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A80P (p.Ala80Pro) variant details
- p.Ala80Pro
- gnomAD 10-99792263-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available