L193P (p.Leu193Pro) variant of MMACHC (Q9Y4U1)
L193P (p.Leu193Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L193P (p.Leu193Pro) variant details
- p.Leu193Pro
- rs1233135084
- ClinGen CA340133521
- ClinVar RCV001004155
- ClinVar RCV004702572
- Pathogenic/Likely pathogenic
- not provided; Cobalamin C disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.97
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -1.07
- CADD 25.90
- PolyPhen-2 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Cobalamin C disease)
- EBI: Pathogenic (in MAHCC)
- UniProt: Pathogenic (in MAHCC)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)