Y18C (p.Tyr18Cys) variant of DNAJC6 (Auxilin)
Y18C (p.Tyr18Cys) in DNAJC6 (Auxilin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile onset Parkinson disease 19A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Y18C (p.Tyr18Cys) variant details
- p.Tyr18Cys
- rs1394529150
- ClinGen CA340672733
- ClinVar RCV001907639
- gnomAD rs1394529150
- Uncertain significance
- Juvenile onset Parkinson disease 19A
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.17
- MetaLR 0.75
- MetaSVM 0.54
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.24
- ClinVar: Uncertain significance (Juvenile onset Parkinson disease 19A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: DNAJC6 Parkinson Disease. (PMID 33983693)