S9F (p.Ser9Phe) variant of PRKN (O60260)
S9F (p.Ser9Phe) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- TOPMed rs1399415195
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.82
- MetaLR 0.93
- MetaSVM 1.05
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.543