Q69R (p.Gln69Arg) variant of ABCC2 (Q92887)
Q69R (p.Gln69Arg) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q69R (p.Gln69Arg) variant details
- p.Gln69Arg
- gnomAD 10-99784780-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 26.00
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available