G155E (p.Gly155Glu) variant of MMACHC (Q9Y4U1)
G155E (p.Gly155Glu) 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 0.94 / 1. The record also includes published literature and structural context.
G155E (p.Gly155Glu) variant details
- p.Gly155Glu
- rs606231425
- ClinGen CA272842
- ClinVar RCV000148300
- Ensembl rs606231425
- Pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)