P37Q (p.Pro37Gln) variant of PRKN (O60260)
P37Q (p.Pro37Gln) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PARK2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P37Q (p.Pro37Gln) variant details
- p.Pro37Gln
- 1000Genomes rs148990138
- ESP rs148990138
- ExAC rs148990138
- TOPMed rs148990138
- Uncertain significance
- in PARK2
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.42
- MetaLR 0.45
- MetaSVM -0.43
- CADD 23.60
- PolyPhen-2 0.53
- SIFT 1.00
- EBI: Variant of uncertain significance (in PARK2)
- UniProt: Uncertain significance (in PARK2)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.743