R89K (p.Arg89Lys) variant of PRKN (O60260)
R89K (p.Arg89Lys) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R89K (p.Arg89Lys) variant details
- p.Arg89Lys
- cosmic curated COSV58292
- gnomAD rs1238707850
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.06
- MetaLR 0.26
- MetaSVM -0.80
- CADD 0.48
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.03