V25I (p.Val25Ile) variant of PARK7 (Parkinson disease protein 7)
V25I (p.Val25Ile) 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 Inborn genetic diseases; Autosomal recessive early-onset Parkinson disease 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V25I (p.Val25Ile) variant details
- p.Val25Ile
- rs781346135
- ClinGen CA569419
- ClinVar RCV000395718
- ClinVar RCV005452976
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.15
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive early-onset Parkins)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)