L50V (p.Leu50Val) variant of PRKN (O60260)
L50V (p.Leu50Val) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- gnomAD rs1378857360
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.86
- MetaLR 0.86
- MetaSVM 0.90
- CADD 26.20
- PolyPhen-2 0.98
- SIFT 0.23
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0154