R89S (p.Arg89Ser) variant of PRKN (O60260)
R89S (p.Arg89Ser) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R89S (p.Arg89Ser) variant details
- p.Arg89Ser
- ExAC rs750337199
- gnomAD rs750337199
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.13
- MetaLR 0.26
- MetaSVM -0.72
- CADD 0.13
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.03