M17V (p.Met17Val) variant of PARK7 (Parkinson disease protein 7)
M17V (p.Met17Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
M17V (p.Met17Val) variant details
- p.Met17Val
- 1000Genomes rs147698459
- ESP rs147698459
- ExAC rs147698459
- TOPMed rs147698459
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.63
- CADD 23.80
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00056)
- Structural context available