K57M (p.Lys57Met) variant of ABCC2 (Q92887)
K57M (p.Lys57Met) in ABCC2 (Q92887) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
K57M (p.Lys57Met) variant details
- p.Lys57Met
- ExAC rs761468521
- gnomAD rs761468521
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.19
- MetaLR 0.10
- MetaSVM -0.98
- CADD 23.90
- PolyPhen-2 0.90
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available