E74D (p.Glu74Asp) variant of MAOB (P27338)
E74D (p.Glu74Asp) in MAOB (P27338) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- rs2035101147
- ClinGen CA413009991
- ClinVar RCV004416014
- TOPMed rs2035101147
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.07
- CADD 5.74
- PolyPhen-2 0.06
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available