E193Q (p.Glu193Gln) variant of MMAB (Q96EY8)
E193Q (p.Glu193Gln) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
E193Q (p.Glu193Gln) variant details
- p.Glu193Gln
- rs749758687
- ClinGen CA386636823
- ClinVar RCV000625542
- ExAC rs749758687
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic (in MACB)
- UniProt: Pathogenic (in MACB)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)