E193K (p.Glu193Lys) variant of MMAB (Q96EY8)
E193K (p.Glu193Lys) 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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
E193K (p.Glu193Lys) variant details
- p.Glu193Lys
- rs749758687
- ClinGen CA6778824
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99904
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.98
- MetaSVM 1.05
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Pathogenic (in MACB)
- UniProt: Pathogenic (in MACB)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic… (PMID 12471062)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)