P45L (p.Pro45Leu) variant of TH (Tyrosine 3-monooxygenase)
P45L (p.Pro45Leu) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs148235227
- ClinGen CA5818822
- ClinVar RCV001195971
- ClinVar RCV002547110
- Conflicting interpretations
- Inborn genetic diseases; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.09
- MetaLR 0.87
- MetaSVM 0.99
- PolyPhen-2 0.47
- SIFT 0.01
- 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)