Y71* (p.Tyr71Ter) variant of LRRK2 (Q5S007)
Y71* (p.Tyr71Ter) in LRRK2 (Q5S007) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Y71* (p.Tyr71Ter) variant details
- p.Tyr71Ter
- rs767872726
- ClinGen CA384399347
- ClinVar RCV002975905
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)