R153Q (p.Arg153Gln) variant of TH (Tyrosine 3-monooxygenase)
R153Q (p.Arg153Gln) 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; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R153Q (p.Arg153Gln) variant details
- p.Arg153Gln
- rs201093528
- ClinGen CA5818692
- cosmic curated COSV60768
- ClinVar RCV001273884
- Conflicting interpretations
- Inborn genetic diseases; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.59
- PolyPhen-2 0.03
- SIFT 0.13
- EVE 0.12
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Autosomal recessive DOPA responsive dys)
- 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)