S3F (p.Ser3Phe) variant of PARK7 (Parkinson disease protein 7)
S3F (p.Ser3Phe) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- gnomAD 1-7962790-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 29.70
- Population evidence available
- Structural context available
- Literature evidence available