L101P (p.Leu101Pro) variant of PARK7 (Parkinson disease protein 7)
L101P (p.Leu101Pro) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive early-onset Parkinson disease 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L101P (p.Leu101Pro) variant details
- p.Leu101Pro
- rs2151432401
- ClinGen CA338165418
- ClinVar RCV001806694
- Ensembl rs2151432401
- Likely pathogenic
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- AlphaMissense 0.92
- MetaLR 0.50
- MetaSVM -0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.27
- ClinVar: Likely pathogenic (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)