P251L (p.Pro251Leu) variant of TH (Tyrosine 3-monooxygenase)
P251L (p.Pro251Leu) 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 0.82 / 1. The record also includes published literature and structural context.
P251L (p.Pro251Leu) variant details
- p.Pro251Leu
- rs1846131487
- UniProt VAR 071715
- Ensembl rs1846131487
- Pathogenic
- in ARSEGS
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.52
- MetaLR 0.99
- MetaSVM 1.06
- PolyPhen-2 0.32
- SIFT 0.00
- EVE 0.82
- EBI: Pathogenic (in ARSEGS)
- UniProt: Pathogenic (in ARSEGS)
- Structural context available
- Cited in: A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy. (PMID 21940685)
- Cited in: Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency. (PMID 10585338)