P73Q (p.Pro73Gln) variant of PRKN (O60260)
P73Q (p.Pro73Gln) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P73Q (p.Pro73Gln) variant details
- p.Pro73Gln
- ExAC rs775743629
- TOPMed rs775743629
- gnomAD rs775743629
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- MetaLR 0.29
- MetaSVM -0.77
- CADD 22.80
- PolyPhen-2 0.28
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.822