I2M (p.Ile2Met) variant of PRKN (O60260)
I2M (p.Ile2Met) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I2M (p.Ile2Met) variant details
- p.Ile2Met
- gnomAD rs1462649580
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.47
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.969