S57I (p.Ser57Ile) variant of PARK7 (Parkinson disease protein 7)
S57I (p.Ser57Ile) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S57I (p.Ser57Ile) variant details
- p.Ser57Ile
- TOPMed rs1418733118
- gnomAD rs1418733118
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.68
- CADD 27.80
- PolyPhen-2 0.52
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available