Y130H (p.Tyr130His) variant of MMACHC (Q9Y4U1)
Y130H (p.Tyr130His) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y130H (p.Tyr130His) variant details
- p.Tyr130His
- rs372670428
- ClinGen CA827720
- ClinVar RCV001004152
- UniProt VAR 024773
- Pathogenic/Likely pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.97
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the East Asian population (allele frequency 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)