D498G (p.Asp498Gly) variant of TH (Tyrosine 3-monooxygenase)
D498G (p.Asp498Gly) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive DOPA responsive dystonia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
D498G (p.Asp498Gly) variant details
- p.Asp498Gly
- rs771351747
- ClinGen CA5818249
- ClinVar RCV000364341
- ClinVar RCV005401417
- Pathogenic/Likely pathogenic
- Autosomal recessive DOPA responsive dystonia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.17
- MetaLR 0.97
- MetaSVM 0.97
- PolyPhen-2 0.94
- SIFT 0.00
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive DOPA responsive dystonia; not provided)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. (PMID 15505183)
- Cited in: Levodopa-responsive infantile parkinsonism due to a novel mutation in the tyrosine hydroxylase gene and exacerbation by… (PMID 15747353)