G399V (p.Gly399Val) variant of MMAA (Q8IVH4)
G399V (p.Gly399Val) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G399V (p.Gly399Val) variant details
- p.Gly399Val
- rs1553959152
- ClinGen CA645509154
- ClinVar RCV000509032
- Ensembl rs1553959152
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- ESM-1b 1.00
- AlphaMissense 0.68
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Structural context available
- Cited in: Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic… (PMID 28497574)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)