R89G (p.Arg89Gly) variant of PRKN (O60260)
R89G (p.Arg89Gly) 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.
R89G (p.Arg89Gly) variant details
- p.Arg89Gly
- cosmic curated COSV58282
- ExAC rs755588390
- gnomAD rs755588390
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.10
- MetaLR 0.25
- MetaSVM -0.76
- CADD 7.62
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.03