P4L (p.Pro4Leu) variant of TH (Tyrosine 3-monooxygenase)
P4L (p.Pro4Leu) 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 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.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs2495843389
- ClinGen CA379112908
- ClinVar RCV003028930
- NCI-TCGA Cosmic COSV6076
- Uncertain significance
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.51
- MetaLR 0.97
- MetaSVM 1.06
- CADD 25.40
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive DOPA responsive dystonia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)