V51L (p.Val51Leu) variant of ABCC2 (Q92887)
V51L (p.Val51Leu) in ABCC2 (Q92887) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V51L (p.Val51Leu) variant details
- p.Val51Leu
- 1000Genomes rs147471996
- ESP rs147471996
- ExAC rs147471996
- TOPMed rs147471996
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 7.16
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available