E92D (p.Glu92Asp) variant of MMACHC (Q9Y4U1)
E92D (p.Glu92Asp) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E92D (p.Glu92Asp) variant details
- p.Glu92Asp
- rs556977618
- ClinGen CA272838
- ClinVar RCV000148298
- TOPMed rs556977618
- Pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.28
- CADD 26.60
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Cited in: Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency. (PMID 23837176)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)