R79C (p.Arg79Cys) variant of MAOA (P21397)
R79C (p.Arg79Cys) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
R79C (p.Arg79Cys) variant details
- p.Arg79Cys
- ExAC rs750916164
- TOPMed rs750916164
- gnomAD rs750916164
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.85
- MetaLR 0.88
- MetaSVM 0.89
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available