Q69E (p.Gln69Glu) variant of ABCC2 (Q92887)
Q69E (p.Gln69Glu) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
Q69E (p.Gln69Glu) variant details
- p.Gln69Glu
- gnomAD 10-99784779-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available