D258N (p.Asp258Asn) variant of MMAA (Q8IVH4)
D258N (p.Asp258Asn) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of MMAA-related disorder; Methylmalonic acidemia; Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D258N (p.Asp258Asn) variant details
- p.Asp258Asn
- rs1728076436
- ClinVar RCV004579650
- ClinVar RCV005023583
- TOPMed rs1728076436
- Likely pathogenic
- MMAA-related disorder; Methylmalonic acidemia; Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (MMAA-related disorder; Methylmalonic acidemia; Methylmalonic aci)
- EBI: Pathogenic (in MACA)
- UniProt: Pathogenic (in MACA)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)