K57E (p.Lys57Glu) variant of ABCC2 (Q92887)
K57E (p.Lys57Glu) in ABCC2 (Q92887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- gnomAD 10-99784743-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 17.50
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available