G156D (p.Gly156Asp) variant of MMACHC (Q9Y4U1)
G156D (p.Gly156Asp) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cobalamin C disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G156D (p.Gly156Asp) variant details
- p.Gly156Asp
- rs1553162910
- ClinGen CA340133108
- ClinVar RCV000670372
- UniProt VAR 024776
- Pathogenic/Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.92
- CADD 26.60
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID 16311595)
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)