P37T (p.Pro37Thr) variant of PRKN (O60260)
P37T (p.Pro37Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P37T (p.Pro37Thr) variant details
- p.Pro37Thr
- TOPMed rs1008851822
- gnomAD rs1008851822
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.67
- MetaLR 0.62
- MetaSVM 0.15
- CADD 25.50
- SIFT 0.52
- Most common in the Amish population (allele frequency 0.0077)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.743