Q63R (p.Gln63Arg) variant of PRKN (O60260)
Q63R (p.Gln63Arg) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q63R (p.Gln63Arg) variant details
- p.Gln63Arg
- gnomAD rs1269160083
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.71
- MetaLR 0.85
- MetaSVM 0.93
- CADD 26.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.927