I131V (p.Ile131Val) variant of MAOA (P21397)
I131V (p.Ile131Val) in MAOA (P21397) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Brunner syndrome. The record also includes variant effect predictions and structural context.
I131V (p.Ile131Val) variant details
- p.Ile131Val
- Ensembl rs1569197329
- Uncertain significance
- Brunner syndrome
- Missense
- MetaLR 0.64
- MetaSVM 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (Brunner syndrome)
- UniProt: Uncertain significance
- Structural context available