A50V (p.Ala50Val) variant of TH (Tyrosine 3-monooxygenase)
A50V (p.Ala50Val) 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 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs756331878
- ClinGen CA5818818
- ClinVar RCV000552368
- ClinVar RCV004669026
- Uncertain significance
- Inborn genetic diseases; Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0738
- CADD 2.61
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal recessive DOPA responsive dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)