E87G (p.Glu87Gly) variant of MAOA (P21397)
E87G (p.Glu87Gly) 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 0.30 / 1. The record also includes population frequency data and structural context.
E87G (p.Glu87Gly) variant details
- p.Glu87Gly
- rs747229681
- ClinGen CA10390742
- ClinVar RCV000805433
- ExAC rs747229681
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.23
- MetaLR 0.04
- MetaSVM -1.14
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.03
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available