P73R (p.Pro73Arg) variant of PRKN (O60260)
P73R (p.Pro73Arg) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P73R (p.Pro73Arg) variant details
- p.Pro73Arg
- ExAC rs775743629
- TOPMed rs775743629
- gnomAD rs775743629
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.24
- MetaLR 0.31
- MetaSVM -0.79
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.822