P37L (p.Pro37Leu) variant of TH (Tyrosine 3-monooxygenase)
P37L (p.Pro37Leu) 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 Inborn genetic diseases; Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- rs775961364
- ClinGen CA5818829
- ClinVar RCV000664631
- ClinVar RCV002530633
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- AlphaMissense 0.08
- MetaLR 0.92
- MetaSVM 0.98
- PolyPhen-2 0.88
- SIFT 0.22
- MutPred 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive DOPA responsive dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)