L305S (p.Leu305Ser) variant of MMUT (P22033)
L305S (p.Leu305Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de. 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.
L305S (p.Leu305Ser) variant details
- p.Leu305Ser
- rs1554160246
- ClinGen CA364401084
- ClinVar RCV000672926
- ClinVar RCV001389294
- Pathogenic
- not provided; Methylmalonic aciduria due to complete methylmalonyl-CoA mutase de
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.99
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Methylmalonic aciduria due to complete methylmalon)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)
- Cited in: Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. (PMID 22727635)