I86L (p.Ile86Leu) variant of MAOA (P21397)
I86L (p.Ile86Leu) in MAOA (P21397) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I86L (p.Ile86Leu) variant details
- p.Ile86Leu
- ExAC rs780148935
- TOPMed rs780148935
- gnomAD rs780148935
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.90
- CADD 1.09
- PolyPhen-2 0.01
- SIFT 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00056)
- Structural context available