Q25P (p.Gln25Pro) variant of PRKN (O60260)
Q25P (p.Gln25Pro) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q25P (p.Gln25Pro) variant details
- p.Gln25Pro
- Ensembl rs1562768862
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.69
- MetaLR 0.51
- MetaSVM 0.08
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.829