A111T (p.Ala111Thr) variant of MAOA (P21397)
A111T (p.Ala111Thr) 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 0.29 / 1. The record also includes population frequency data and structural context.
A111T (p.Ala111Thr) variant details
- p.Ala111Thr
- rs755919316
- ClinGen CA10390763
- ClinVar RCV003509661
- ExAC rs755919316
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- MetaLR 0.46
- MetaSVM -0.68
- CADD 9.08
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available