I23T (p.Ile23Thr) variant of PRKN (O60260)
I23T (p.Ile23Thr) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I23T (p.Ile23Thr) variant details
- p.Ile23Thr
- 1000Genomes rs199859147
- ExAC rs199859147
- gnomAD rs199859147
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.85
- AlphaMissense 0.91
- MetaLR 0.64
- MetaSVM 0.46
- CADD 26.10
- PolyPhen-2 0.95
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0135