R145Q (p.Arg145Gln) variant of MMAA (Q8IVH4)
R145Q (p.Arg145Gln) 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 acidemia; Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R145Q (p.Arg145Gln) variant details
- p.Arg145Gln
- rs200577967
- ClinGen CA3095168
- ClinVar RCV001386117
- ClinVar RCV003388009
- Pathogenic/Likely pathogenic
- Methylmalonic acidemia; Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic acidemia; Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Cited in: Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. (PMID 15523652)
- Cited in: Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic… (PMID 28497574)