R50R (p.Arg50Arg) variant of LRRK2 (Q5S007)
R50R (p.Arg50Arg) in LRRK2 (Q5S007) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R50R (p.Arg50Arg) variant details
- p.Arg50Arg
- gnomAD 12-40225281-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 16.20
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available