P34L (p.Pro34Leu) variant of PINK1 (Q9BXM7)
P34L (p.Pro34Leu) in PINK1 (Q9BXM7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- TOPMed rs1006830855
- gnomAD rs1006830855
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.14
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available