R48C (p.Arg48Cys) variant of PARK7 (Parkinson disease protein 7)
R48C (p.Arg48Cys) in PARK7 (Parkinson disease protein 7) 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 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs760020407
- ClinGen CA569447
- ClinVar RCV002629932
- ExAC rs760020407
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.63
- CADD 28.90
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)