G630E (p.Gly630Glu) variant of MMUT (P22033)
G630E (p.Gly630Glu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G630E (p.Gly630Glu) variant details
- p.Gly630Glu
- rs143023066
- ClinGen CA3846717
- ClinVar RCV000489642
- ClinVar RCV000666698
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.99
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria due to complete methylmalonyl-CoA mutase)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the REMAINING population (allele frequency 6.6e-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: Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of… (PMID 17113806)