R187C (p.Arg187Cys) variant of TH (Tyrosine 3-monooxygenase)
R187C (p.Arg187Cys) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive DOPA responsive dystonia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R187C (p.Arg187Cys) variant details
- p.Arg187Cys
- rs762552586
- ClinGen CA5818655
- ClinVar RCV003326802
- ClinVar RCV005103909
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.12
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.19
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)