E259G (p.Glu259Gly) variant of TH (Tyrosine 3-monooxygenase)
E259G (p.Glu259Gly) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in ARSEGS. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E259G (p.Glu259Gly) variant details
- p.Glu259Gly
- UniProt VAR 072868
- Pathogenic
- in ARSEGS
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.83
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. (PMID 20430833)
- Cited in: Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in… (PMID 24753243)