L41F (p.Leu41Phe) variant of PRKN (O60260)
L41F (p.Leu41Phe) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- ExAC rs750884521
- TOPMed rs750884521
- gnomAD rs750884521
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.69
- MetaLR 0.47
- MetaSVM -0.04
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.0167