D215H (p.Asp215His) variant of TH (Tyrosine 3-monooxygenase)
D215H (p.Asp215His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
D215H (p.Asp215His) variant details
- p.Asp215His
- rs139807727
- ClinGen CA379128454
- ClinVar RCV002595191
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- AlphaMissense 0.75
- MetaLR 0.95
- MetaSVM 1.04
- PolyPhen-2 0.13
- SIFT 0.03
- EVE 0.18
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)