I55L (p.Ile55Leu) variant of MAOA (P21397)
I55L (p.Ile55Leu) 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 0.37 / 1. The record also includes structural context.
I55L (p.Ile55Leu) variant details
- p.Ile55Leu
- rs747281025
- ClinGen CA413004431
- ClinVar RCV003622236
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.06
- MetaLR 0.33
- MetaSVM -0.65
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.10
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available