T55M (p.Thr55Met) variant of MMACHC (Q9Y4U1)
T55M (p.Thr55Met) in MMACHC (Q9Y4U1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cobalamin C disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T55M (p.Thr55Met) variant details
- p.Thr55Met
- rs375330130
- ClinGen CA827657
- ClinVar RCV002681027
- ClinVar RCV003481322
- Uncertain significance
- Cobalamin C disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.89
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Cobalamin C disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)