T49N (p.Thr49Asn) variant of TH (Tyrosine 3-monooxygenase)
T49N (p.Thr49Asn) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
T49N (p.Thr49Asn) variant details
- p.Thr49Asn
- rs540910436
- ClinGen CA5818819
- ClinVar RCV002914708
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.10
- MetaLR 0.88
- MetaSVM 0.93
- PolyPhen-2 0.01
- SIFT 0.23
- MutPred 0.15
- 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)