L328P (p.Leu328Pro) variant of MMUT (P22033)
L328P (p.Leu328Pro) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L328P (p.Leu328Pro) variant details
- p.Leu328Pro
- rs965316043
- ClinGen CA138797075
- ClinVar RCV000668074
- ClinVar RCV001855493
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency; Methylmalonic
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.99
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to methylmalonyl-CoA mutase deficienc)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Population evidence available
- Structural context available
- Cited in: Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID 15781192)
- Cited in: Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB… (PMID 17957493)