P73L (p.Pro73Leu) variant of PRKN (O60260)
P73L (p.Pro73Leu) in PRKN (O60260) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- ExAC rs775743629
- TOPMed rs775743629
- gnomAD rs775743629
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.822