E74D (p.Glu74Asp) variant of MMAB (Q96EY8)
E74D (p.Glu74Asp) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- rs1389815526
- ClinGen CA386639737
- ClinVar RCV001829450
- TOPMed rs1389815526
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)