R359Q (p.Arg359Gln) variant of MMAA (Q8IVH4)
R359Q (p.Arg359Gln) 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 aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R359Q (p.Arg359Gln) variant details
- p.Arg359Gln
- rs864309731
- ClinGen CA347905
- cosmic curated COSV10874
- ClinVar RCV000203388
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.59
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. (PMID 15523652)
- Cited in: High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic… (PMID 23026888)