T19M (p.Thr19Met) variant of PARK7 (Parkinson disease protein 7)
T19M (p.Thr19Met) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
T19M (p.Thr19Met) variant details
- p.Thr19Met
- rs758016497
- ClinGen CA569415
- NCI-TCGA Cosmic COSV5858
- cosmic curated COSV58580
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.51
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.17
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)