D227G (p.Asp227Gly) variant of TH (Tyrosine 3-monooxygenase)
D227G (p.Asp227Gly) 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 0.97 / 1. The record also includes published literature and structural context.
D227G (p.Asp227Gly) variant details
- p.Asp227Gly
- rs1846145669
- UniProt VAR 072864
- gnomAD rs1846145669
- Pathogenic
- in ARSEGS
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- 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)