R50= variant of LRRK2 (Q5S007)
R50= in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as benign. 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.
R50= variant details
- rs2256408
- ClinVar RCV000032408
- ClinVar RCV000518786
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.97
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Benign (in dbSNP:rs2256408)
- UniProt: Benign (in dbSNP:rs2256408)
- Population evidence available
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)