Q42E (p.Gln42Glu) variant of MMAA (Q8IVH4)
Q42E (p.Gln42Glu) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q42E (p.Gln42Glu) variant details
- p.Gln42Glu
- rs758345818
- ClinGen CA3095126
- ClinVar RCV000670989
- ExAC rs758345818
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)