T269M (p.Thr269Met) variant of TH (Tyrosine 3-monooxygenase)
T269M (p.Thr269Met) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
T269M (p.Thr269Met) variant details
- p.Thr269Met
- rs757607038
- ClinGen CA5818512
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.10
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.31
- 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)