R1441S (p.Arg1441Ser) variant of LRRK2 (Q5S007)
R1441S (p.Arg1441Ser) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R1441S (p.Arg1441Ser) variant details
- p.Arg1441Ser
- rs33939927
- ClinGen CA358589
- ClinVar RCV000210925
- ClinVar RCV000804195
- Likely pathogenic
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- AlphaMissense 0.65
- MetaLR 0.59
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.36
- EVE 0.66
- ClinVar: Likely pathogenic (Autosomal dominant Parkinson disease 8)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)