R51T (p.Arg51Thr) variant of PRKN (O60260)
R51T (p.Arg51Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R51T (p.Arg51Thr) variant details
- p.Arg51Thr
- TOPMed rs1005880478
- gnomAD rs1005880478
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.16
- MetaLR 0.11
- MetaSVM -0.90
- CADD 15.60
- PolyPhen-2 0.23
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.885