P152L (p.Pro152Leu) variant of TH (Tyrosine 3-monooxygenase)
P152L (p.Pro152Leu) 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 Autosomal recessive DOPA responsive dystonia; Inborn genetic diseases; not provi. 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.
P152L (p.Pro152Leu) variant details
- p.Pro152Leu
- rs760017478
- ClinGen CA5818695
- NCI-TCGA Cosmic COSV6076
- cosmic curated COSV60766
- Conflicting interpretations
- Autosomal recessive DOPA responsive dystonia; Inborn genetic diseases; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.09
- MetaLR 0.90
- MetaSVM 0.65
- PolyPhen-2 0.00
- SIFT 0.98
- EVE 0.11
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive DOPA responsive dystonia; Inborn genetic dis)
- 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)