P34R (p.Pro34Arg) variant of PINK1 (Q9BXM7)
P34R (p.Pro34Arg) in PINK1 (Q9BXM7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive early-onset Parkinson disease 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- rs1006830855
- ClinGen CA18987717
- ClinVar RCV001893903
- TOPMed rs1006830855
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.07
- CADD 16.90
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)