K57R (p.Lys57Arg) variant of ABCC2 (Q92887)
K57R (p.Lys57Arg) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dubin-Johnson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- rs761468521
- ClinGen CA378100947
- ClinVar RCV001329234
- ExAC rs761468521
- Uncertain significance
- Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.19
- MetaLR 0.10
- MetaSVM -0.98
- PolyPhen-2 0.90
- SIFT 0.10
- MutPred 0.35
- ClinVar: Uncertain significance (Dubin-Johnson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available