R75K (p.Arg75Lys) variant of PRKN (O60260)
R75K (p.Arg75Lys) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R75K (p.Arg75Lys) variant details
- p.Arg75Lys
- ExAC rs759650233
- TOPMed rs759650233
- gnomAD rs759650233
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.17
- MetaLR 0.37
- MetaSVM -0.60
- CADD 11.70
- PolyPhen-2 0.00
- SIFT 0.70
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.991