R50H (p.Arg50His) variant of LRRK2 (Q5S007)
R50H (p.Arg50His) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; Autosomal dominant Parkinson disease 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs2256408
- ClinGen CA6512984
- cosmic curated COSV10459
- ClinVar RCV001520526
- Benign
- not specified; Autosomal dominant Parkinson disease 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.03
- AlphaMissense 0.06
- MetaLR 0.00
- MetaSVM -0.97
- CADD 11.60
- PolyPhen-2 0.00
- ClinVar: Benign (not specified; Autosomal dominant Parkinson disease 8; not provi)
- EBI: Benign (in dbSNP:rs2256408)
- UniProt: Benign (in dbSNP:rs2256408)
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)