R164H (p.Arg164His) variant of TH (Tyrosine 3-monooxygenase)
R164H (p.Arg164His) 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 not provided; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R164H (p.Arg164His) variant details
- p.Arg164His
- rs376881948
- ClinGen CA5818680
- cosmic curated COSV10014
- ClinVar RCV000401042
- Uncertain significance
- not provided; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 0.19
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 0.72
- SIFT 0.13
- EVE 0.28
- ClinVar: Uncertain significance (not provided; Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)