M1I (p.Met1Ile) variant of MAOA (P21397)
M1I (p.Met1Ile) 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 variant effect predictions and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1601921232
- ClinGen CA413004063
- ClinVar RCV000800325
- Uncertain significance
- Brunner syndrome
- Missense
- MetaLR 0.04
- MetaSVM -1.09
- PolyPhen-2 0.14
- SIFT 0.03
- MutPred 0.60
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available