K27Q (p.Lys27Gln) variant of PRKN (O60260)
K27Q (p.Lys27Gln) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K27Q (p.Lys27Gln) variant details
- p.Lys27Gln
- gnomAD rs1790157768
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.90
- MetaLR 0.90
- MetaSVM 1.04
- CADD 25.90
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0201