R5K (p.Arg5Lys) variant of PARK7 (Parkinson disease protein 7)
R5K (p.Arg5Lys) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.29
- CADD 22.80
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available