I19T (p.Ile19Thr) variant of MAOA (P21397)
I19T (p.Ile19Thr) 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 record also includes structural context.
I19T (p.Ile19Thr) variant details
- p.Ile19Thr
- rs2519103647
- ClinGen CA413004192
- ClinVar RCV003622615
- Uncertain significance
- Brunner syndrome
- Missense
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available