R233C (p.Arg233Cys) variant of TH (Tyrosine 3-monooxygenase)
R233C (p.Arg233Cys) 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 0.96 / 1. The record also includes population frequency data, published literature, and structural context.
R233C (p.Arg233Cys) variant details
- p.Arg233Cys
- rs1021029193
- ClinGen CA379128112
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60767
- Likely pathogenic
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Likely pathogenic (Autosomal recessive DOPA responsive dystonia)
- EBI: Likely pathogenic (in ARSEGS)
- UniProt: Likely pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)