T55I (p.Thr55Ile) variant of PRKN (O60260)
T55I (p.Thr55Ile) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- TOPMed rs1790150139
- gnomAD rs1790150139
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.68
- MetaLR 0.47
- MetaSVM -0.12
- CADD 23.10
- PolyPhen-2 0.53
- SIFT 0.30
- Most common in the Middle Eastern population (allele frequency 0.00023)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.559