G188R (p.Gly188Arg) variant of MMAA (Q8IVH4)
G188R (p.Gly188Arg) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes population frequency data, published literature, and structural context.
G188R (p.Gly188Arg) variant details
- p.Gly188Arg
- rs864309729
- ClinGen CA347857
- ClinVar RCV000203317
- UniProt VAR 080016
- Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB… (PMID 17957493)
- Cited in: Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex… (PMID 20876572)