S47G (p.Ser47Gly) variant of PARK7 (Parkinson disease protein 7)
S47G (p.Ser47Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- TOPMed rs1015407444
- gnomAD rs1015407444
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.75
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00015)
- Structural context available