K27R (p.Lys27Arg) variant of PRKN (O60260)
K27R (p.Lys27Arg) in PRKN (O60260) 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 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- TOPMed rs1562768845
- gnomAD rs1562768845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.87
- MetaLR 0.86
- MetaSVM 0.93
- CADD 27.00
- PolyPhen-2 0.84
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0201