V70L (p.Val70Leu) variant of ABCC2 (Q92887)
V70L (p.Val70Leu) 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 0.76 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- ExAC rs199700510
- TOPMed rs199700510
- gnomAD rs199700510
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 27.80
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available