V37I (p.Val37Ile) variant of MAOA (P21397)
V37I (p.Val37Ile) 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 0.14 / 1. The record also includes population frequency data and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- rs779299641
- ClinGen CA10390721
- ClinVar RCV001987861
- ExAC rs779299641
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.64
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.2)
- Structural context available