Y130C (p.Tyr130Cys) variant of MMACHC (Q9Y4U1)
Y130C (p.Tyr130Cys) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Cobalamin C disease; Hereditary neuropathy or pain disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y130C (p.Tyr130Cys) variant details
- p.Tyr130Cys
- rs200094982
- ClinGen CA827721
- ClinVar RCV000504286
- ClinVar RCV001074563
- Pathogenic/Likely pathogenic
- not provided; Cobalamin C disease; Hereditary neuropathy or pain disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.98
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cobalamin C disease; Hereditary neuropathy or pain)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the Non-Finnish European population (allele frequency 0.00025)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)