S57T (p.Ser57Thr) variant of PARK7 (Parkinson disease protein 7)
S57T (p.Ser57Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S57T (p.Ser57Thr) variant details
- p.Ser57Thr
- TOPMed rs1418733118
- gnomAD rs1418733118
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.32
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available