L328F (p.Leu328Phe) variant of MMUT (P22033)
L328F (p.Leu328Phe) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic acidemia; Methylmalonic aciduria due to methylmalony. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L328F (p.Leu328Phe) variant details
- p.Leu328Phe
- rs796052002
- ClinGen CA312762
- ClinVar RCV000589433
- ClinVar RCV000666436
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic acidemia; Methylmalonic aciduria due to methylmalony
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic acidemia; Methylmalonic aciduria due)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Population evidence available
- Structural context available
- Cited in: Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms… (PMID 15643616)
- Cited in: Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of… (PMID 17113806)