E58K (p.Glu58Lys) variant of MAOA (P21397)
E58K (p.Glu58Lys) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- rs759325782
- ClinGen CA10390734
- ClinVar RCV001772476
- ClinVar RCV006467846
- Uncertain significance
- not provided; Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.89
- CADD 3.13
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available