Q34R (p.Gln34Arg) variant of PRKN (O60260)
Q34R (p.Gln34Arg) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- rs148851677
- ClinGen CA4090514
- ClinVar RCV000537921
- ClinVar RCV001507187
- Benign/Likely benign
- not provided; not specified; Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.59
- MetaLR 0.53
- MetaSVM 0.13
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.21
- ClinVar: Benign/Likely benign (not provided; not specified; Autosomal recessive juvenile Parkin)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)