G97E (p.Gly97Glu) variant of MMAB (Q96EY8)
G97E (p.Gly97Glu) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G97E (p.Gly97Glu) variant details
- p.Gly97Glu
- rs864309511
- ClinGen CA278561
- ClinVar RCV000202589
- Ensembl rs864309511
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. (PMID 20556797)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)