I55V (p.Ile55Val) variant of MAOA (P21397)
I55V (p.Ile55Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- rs747281025
- ClinGen CA10390724
- ClinVar RCV003510468
- ExAC rs747281025
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.18
- AlphaMissense 0.06
- MetaLR 0.33
- MetaSVM -0.65
- CADD 3.73
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00014)
- Structural context available