V33L (p.Val33Leu) variant of ABCC2 (Q92887)
V33L (p.Val33Leu) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- ESP rs139131305
- ExAC rs139131305
- TOPMed rs139131305
- gnomAD rs139131305
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available