R93H (p.Arg93His) variant of MMUT (P22033)
R93H (p.Arg93His) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic acidemia; Methylmalonic aciduria due to complete methylmalonyl-CoA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R93H (p.Arg93His) variant details
- p.Arg93His
- rs121918251
- ClinGen CA249728
- ClinVar RCV000001957
- ClinVar RCV000175568
- Pathogenic
- Methylmalonic acidemia; Methylmalonic aciduria due to complete methylmalonyl-CoA
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic acidemia; Methylmalonic aciduria due to complete m)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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: Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria… (PMID 1670635)