R55K (p.Arg55Lys) variant of ABCC2 (Q92887)
R55K (p.Arg55Lys) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R55K (p.Arg55Lys) variant details
- p.Arg55Lys
- gnomAD 10-99784738-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available