G145S (p.Gly145Ser) variant of MMUT (P22033)
G145S (p.Gly145Ser) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G145S (p.Gly145Ser) variant details
- p.Gly145Ser
- rs1237080100
- UniProt VAR 026598
- TOPMed rs1237080100
- gnomAD rs1237080100
- Pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; Meth
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.99
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Population evidence available
- 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: mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion… (PMID 10923046)