I2T (p.Ile2Thr) variant of PRKN (O60260)
I2T (p.Ile2Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I2T (p.Ile2Thr) variant details
- p.Ile2Thr
- gnomAD rs1779350904
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.44
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.969