R50P (p.Arg50Pro) variant of LRRK2 (Q5S007)
R50P (p.Arg50Pro) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R50P (p.Arg50Pro) variant details
- p.Arg50Pro
- gnomAD 12-40225280-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.01
- MetaLR 0.07
- MetaSVM -1.05
- CADD 16.80
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available