I150K (p.Ile150Lys) variant of MMACHC (Q9Y4U1)
I150K (p.Ile150Lys) 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 0.79 / 1. The record also includes published literature and structural context.
I150K (p.Ile150Lys) variant details
- p.Ile150Lys
- rs756413692
- ClinGen CA340133046
- ClinVar RCV001390451
- ExAC rs756413692
- Pathogenic
- Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- AlphaMissense 0.85
- MetaLR 0.90
- MetaSVM 0.89
- PolyPhen-2 0.11
- SIFT 0.01
- EVE 0.67
- ClinVar: Pathogenic (Cobalamin C disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Disorders of Intracellular Cobalamin Metabolism. (PMID 20301503)