I241F (p.Ile241Phe) variant of MMAA (Q8IVH4)
I241F (p.Ile241Phe) 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 0.48 / 1. The record also includes published literature and structural context.
I241F (p.Ile241Phe) variant details
- p.Ile241Phe
- rs756221585
- ClinGen CA358356365
- cosmic curated COSV10801
- ClinVar RCV000509028
- Pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.29
- MetaSVM -0.75
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Structural context available
- Cited in: Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic… (PMID 28497574)
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)