Q64P (p.Gln64Pro) variant of PRKN (O60260)
Q64P (p.Gln64Pro) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q64P (p.Gln64Pro) variant details
- p.Gln64Pro
- ESP rs373204115
- ExAC rs373204115
- TOPMed rs373204115
- gnomAD rs373204115
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.84
- MetaLR 0.90
- MetaSVM 1.03
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02