H678R (p.His678Arg) variant of MMUT (P22033)
H678R (p.His678Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H678R (p.His678Arg) variant details
- p.His678Arg
- rs147094927
- ClinGen CA138794539
- ClinVar RCV003317720
- UniProt VAR 004427
- Likely pathogenic
- Methylmalonic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.91
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic acidemia)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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: Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for… (PMID 9285782)