F71L (p.Phe71Leu) variant of ABCC2 (Q92887)
F71L (p.Phe71Leu) in ABCC2 (Q92887) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
F71L (p.Phe71Leu) variant details
- p.Phe71Leu
- ExAC rs770824435
- TOPMed rs770824435
- gnomAD rs770824435
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0726
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available