A36T (p.Ala36Thr) variant of TH (Tyrosine 3-monooxygenase)
A36T (p.Ala36Thr) 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 Inborn genetic diseases; not provided; Autosomal recessive DOPA responsive dysto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs376736869
- ClinGen CA5818831
- ClinVar RCV001200079
- ClinVar RCV001277937
- Conflicting interpretations
- Inborn genetic diseases; not provided; Autosomal recessive DOPA responsive dysto
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.07
- MetaLR 0.87
- MetaSVM 0.90
- PolyPhen-2 0.00
- SIFT 0.76
- MutPred 0.17
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Autosomal recessive DOPA)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)