Q218H (p.Gln218His) variant of MMUT (P22033)
Q218H (p.Gln218His) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of MMUT-related disorder; Methylmalonic aciduria due to complete methylmalonyl-CoA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
Q218H (p.Gln218His) variant details
- p.Gln218His
- rs1446389693
- ClinGen CA364404273
- ClinVar RCV000666245
- ClinVar RCV001091102
- Pathogenic/Likely pathogenic
- MMUT-related disorder; Methylmalonic aciduria due to complete methylmalonyl-CoA
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.93
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (MMUT-related disorder; Methylmalonic aciduria due to complete me)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion… (PMID 10923046)
- Cited in: Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PMID 16281286)