C6S (p.Cys6Ser) variant of LRRK2 (Q5S007)
C6S (p.Cys6Ser) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
C6S (p.Cys6Ser) variant details
- p.Cys6Ser
- rs1940800044
- ClinGen CA384398246
- ClinVar RCV002944179
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.09
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.33
- SIFT 0.01
- MutPred 0.38
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)