R45Q (p.Arg45Gln) variant of MAOA (P21397)
R45Q (p.Arg45Gln) 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 0.78 / 1. The record also includes population frequency data and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- ExAC rs745892947
- TOPMed rs745892947
- gnomAD rs745892947
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.92
- MetaLR 0.89
- MetaSVM 0.99
- CADD 23.80
- PolyPhen-2 0.81
- SIFT 0.04
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available