R45W (p.Arg45Trp) variant of MAOA (P21397)
R45W (p.Arg45Trp) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs796065312
- ClinGen CA204424
- ClinVar RCV000190424
- ClinVar RCV002293426
- Uncertain significance
- not provided; Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.93
- MetaLR 0.93
- MetaSVM 1.03
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Monoamine oxidase deficiency: a cause of flushing and attention-deficit/ hyperactivity disorder? (PMID 11700166)
- Cited in: New insights into Brunner syndrome and potential for targeted therapy. (PMID 25807999)