R484C (p.Arg484Cys) variant of TH (Tyrosine 3-monooxygenase)
R484C (p.Arg484Cys) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
R484C (p.Arg484Cys) variant details
- p.Arg484Cys
- rs755922032
- ClinGen CA216281807
- NCI-TCGA Cosmic COSV5174
- cosmic curated COSV51747
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.44
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)