A385V (p.Ala385Val) variant of TH (Tyrosine 3-monooxygenase)
A385V (p.Ala385Val) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Autosomal recessive DOPA responsive dystonia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A385V (p.Ala385Val) variant details
- p.Ala385Val
- rs763039181
- ClinGen CA5818394
- ClinVar RCV002222933
- ClinVar RCV002466745
- Conflicting interpretations
- not specified; Autosomal recessive DOPA responsive dystonia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- AlphaMissense 0.25
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.37
- ClinVar: Conflicting classifications of pathogenicity (not specified; Autosomal recessive DOPA responsive dystonia; not)
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Population evidence available
- Structural context available
- Cited in: Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. (PMID 20056467)
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)