P73T (p.Pro73Thr) variant of PRKN (O60260)
P73T (p.Pro73Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- ExAC rs761534755
- TOPMed rs761534755
- gnomAD rs761534755
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.24
- MetaLR 0.23
- MetaSVM -0.90
- CADD 21.80
- PolyPhen-2 0.34
- SIFT 0.08
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.822