L10V (p.Leu10Val) variant of PARK7 (Parkinson disease protein 7)
L10V (p.Leu10Val) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- rs1309873819
- ClinGen CA338163926
- ClinVar RCV000797024
- TOPMed rs1309873819
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.51
- CADD 23.10
- PolyPhen-2 0.13
- SIFT 0.04
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Variant of uncertain significance (in PARK7)
- UniProt: Uncertain significance (in PARK7)
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)