K28R (p.Lys28Arg) variant of MCM5 (P33992)
K28R (p.Lys28Arg) in MCM5 (P33992) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes population frequency data and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- 1000Genomes rs200623346
- ESP rs200623346
- ExAC rs200623346
- TOPMed rs200623346
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available