L674F (p.Leu674Phe) variant of MMUT (P22033)
L674F (p.Leu674Phe) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L674F (p.Leu674Phe) variant details
- p.Leu674Phe
- rs1164271240
- ClinGen CA364394526
- ClinVar RCV000707565
- ClinVar RCV001830569
- Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.83
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.08
- CADD 22.90
- PolyPhen-2 0.99
- ClinVar: Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (PMID 22727635)
- Cited in: Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel… (PMID 27167370)