I31V (p.Ile31Val) variant of PARK7 (Parkinson disease protein 7)
I31V (p.Ile31Val) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- rs749054218
- ClinGen CA338164553
- ClinVar RCV001097593
- ExAC rs749054218
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.25
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)