F14L (p.Phe14Leu) variant of TH (Tyrosine 3-monooxygenase)
F14L (p.Phe14Leu) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- rs2495842917
- ClinGen CA379112850
- ClinVar RCV002620306
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.57
- MetaLR 0.93
- MetaSVM 1.07
- CADD 23.40
- PolyPhen-2 0.15
- SIFT 0.05
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)