Q78P (p.Gln78Pro) variant of PRKN (O60260)
Q78P (p.Gln78Pro) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q78P (p.Gln78Pro) variant details
- p.Gln78Pro
- gnomAD rs1050736954
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.15
- MetaLR 0.27
- MetaSVM -0.67
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.04