E5Q (p.Glu5Gln) variant of MAOA (P21397)
E5Q (p.Glu5Gln) 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 0.23 / 1. The record also includes population frequency data and structural context.
E5Q (p.Glu5Gln) variant details
- p.Glu5Gln
- ExAC rs775694295
- TOPMed rs775694295
- gnomAD rs775694295
- Uncertain significance
- not provided; Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.04
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.38
- ClinVar: Uncertain significance (not provided; Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available