Y71C (p.Tyr71Cys) variant of LRRK2 (Q5S007)
Y71C (p.Tyr71Cys) 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; Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Y71C (p.Tyr71Cys) variant details
- p.Tyr71Cys
- rs1442049869
- ClinGen CA384399337
- ClinVar RCV002033596
- ClinVar RCV004045234
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- MetaLR 0.24
- MetaSVM -0.49
- CADD 27.30
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)