R252H (p.Arg252His) variant of TH (Tyrosine 3-monooxygenase)
R252H (p.Arg252His) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autosomal recessive DOPA responsive dystonia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R252H (p.Arg252His) variant details
- p.Arg252His
- rs150559011
- ClinGen CA5818543
- cosmic curated COSV10645
- ClinVar RCV001965919
- Likely benign
- Autosomal recessive DOPA responsive dystonia
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- AlphaMissense 0.07
- MetaLR 0.93
- MetaSVM 0.85
- PolyPhen-2 0.02
- SIFT 0.30
- EVE 0.19
- ClinVar: Likely benign (Autosomal recessive DOPA responsive dystonia)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)