Y207C (p.Tyr207Cys) variant of MMAA (Q8IVH4)
Y207C (p.Tyr207Cys) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
Y207C (p.Tyr207Cys) variant details
- p.Tyr207Cys
- rs104893849
- ClinGen CA252607
- ClinVar RCV000003309
- UniProt VAR 017202
- Pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- ESM-1b 1.00
- AlphaMissense 0.81
- MetaLR 0.89
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Structural context available
- Cited in: Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic… (PMID 12438653)
- Cited in: Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. (PMID 15523652)