L89P (p.Leu89Pro) variant of MMAA (Q8IVH4)
L89P (p.Leu89Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L89P (p.Leu89Pro) variant details
- p.Leu89Pro
- rs864309726
- ClinGen CA347910
- cosmic curated COSV55579
- ClinVar RCV000203404
- Pathogenic/Likely pathogenic
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 27.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic aciduria, cblA type)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the Non-Finnish European population (allele frequency 4.4e-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: Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic… (PMID 28497574)