E154D (p.Glu154Asp) variant of MMAB (Q96EY8)
E154D (p.Glu154Asp) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
E154D (p.Glu154Asp) variant details
- p.Glu154Asp
- rs1392513631
- ClinGen CA386637438
- ClinVar RCV001527451
- gnomAD rs1392513631
- Pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)