V15L (p.Val15Leu) variant of PRKN (O60260)
V15L (p.Val15Leu) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- 1000Genomes rs532703934
- ExAC rs532703934
- TOPMed rs532703934
- gnomAD rs532703934
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.41
- MetaLR 0.34
- MetaSVM -0.41
- CADD 24.20
- PolyPhen-2 0.87
- SIFT 0.08
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.228