I44L (p.Ile44Leu) variant of PRKN (O60260)
I44L (p.Ile44Leu) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I44L (p.Ile44Leu) variant details
- p.Ile44Leu
- gnomAD rs1210977280
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.53
- MetaLR 0.51
- MetaSVM 0.02
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.71