S9P (p.Ser9Pro) variant of PRKN (O60260)
S9P (p.Ser9Pro) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- gnomAD rs111356273
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.85
- MetaLR 0.92
- MetaSVM 1.07
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.543