M17L (p.Met17Leu) variant of PARK7 (Parkinson disease protein 7)
M17L (p.Met17Leu) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
M17L (p.Met17Leu) variant details
- p.Met17Leu
- 1000Genomes rs147698459
- ESP rs147698459
- ExAC rs147698459
- TOPMed rs147698459
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.49
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available