S52F (p.Ser52Phe) variant of LRRK2 (Q5S007)
S52F (p.Ser52Phe) in LRRK2 (Q5S007) is a missense change. The available record places it in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S52F (p.Ser52Phe) variant details
- p.Ser52Phe
- rs72546335
- ClinGen CA343483
- ClinVar RCV000032410
- TOPMed rs72546335
- not provided
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.15
- MetaLR 0.09
- MetaSVM -1.00
- CADD 23.90
- PolyPhen-2 0.13
- SIFT 0.03
- ClinVar: not provided (Autosomal dominant Parkinson disease 8)
- UniProt: Not provided
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)