R96H (p.Arg96His) variant of MAOA (P21397)
R96H (p.Arg96His) in MAOA (P21397) is a missense change. Clinical records from ClinVar 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 0.46 / 1. The record also includes population frequency data and structural context.
R96H (p.Arg96His) variant details
- p.Arg96His
- ExAC rs769511910
- TOPMed rs769511910
- gnomAD rs769511910
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.38
- MetaLR 0.72
- MetaSVM 0.24
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Brunner syndrome)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available