C6Y (p.Cys6Tyr) variant of LRRK2 (Q5S007)
C6Y (p.Cys6Tyr) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- rs1940800044
- ClinGen CA384398247
- ClinVar RCV002407888
- Ensembl rs1940800044
- Uncertain significance
- Inborn genetic diseases
- 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 (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)