V35I (p.Val35Ile) variant of PARK7 (Parkinson disease protein 7)
V35I (p.Val35Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- rs770946447
- ClinGen CA569445
- ClinVar RCV002909615
- ClinVar RCV005002901
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0917
- REVEL 0.11
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- 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)