K12R (p.Lys12Arg) variant of ORC1 (Q13415)
K12R (p.Lys12Arg) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, population frequency data, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- TOPMed rs1647742931
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.59
- MetaSVM 0.28
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available