M1L (p.Met1Leu) variant of MMACHC (Q9Y4U1)
M1L (p.Met1Leu) 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 0.93 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs758477536
- ClinGen CA21825901
- ClinVar RCV003497071
- Pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)