R50C (p.Arg50Cys) variant of LRRK2 (Q5S007)
R50C (p.Arg50Cys) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- gnomAD 12-40225279-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.06
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available