R1441H (p.Arg1441His) variant of LRRK2 (Q5S007)
R1441H (p.Arg1441His) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R1441H (p.Arg1441His) variant details
- p.Arg1441His
- rs34995376
- ClinGen CA339930
- ClinVar RCV000002019
- UniProt VAR 024947
- Pathogenic/Likely pathogenic
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.64
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM -0.16
- CADD 24.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant Parkinson disease 8)
- EBI: Pathogenic (in PARK8)
- UniProt: Pathogenic (in PARK8)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations. (PMID 16157909)
- Cited in: Lrrk2 pathogenic substitutions in Parkinson's disease. (PMID 16172858)