V112M (p.Val112Met) variant of TH (Tyrosine 3-monooxygenase)
V112M (p.Val112Met) in TH (Tyrosine 3-monooxygenase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Schizophrenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V112M (p.Val112Met) variant details
- p.Val112Met
- rs6356
- ClinGen CA342583
- cosmic curated COSV60767
- ClinVar RCV000021078
- Benign/Likely benign
- not specified; not provided; Schizophrenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.19
- PolyPhen-2 0.00
- SIFT 0.34
- EVE 0.07
- ClinVar: Benign/Likely benign (not specified; not provided; Schizophrenia)
- EBI: Benign (in dbSNP:rs6356)
- UniProt: Benign (in dbSNP:rs6356)
- Population evidence available
- Structural context available
- Cited in: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)