E432A (p.Glu432Ala) variant of MMUT (P22033)
E432A (p.Glu432Ala) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic acidemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E432A (p.Glu432Ala) variant details
- p.Glu432Ala
- rs1297307718
- ClinGen CA364398703
- ClinVar RCV001389292
- ClinVar RCV003331146
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic acidemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic acidemia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)